Variant report

Variant	rs12682856
Chromosome Location	chr9:139623090-139623091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:139623000-139623150	GM12873	blood:	n/a	chr9:139623078-139623087
2	POLR2A	chr9:139621708-139623134	GM12892	blood:	n/a	n/a
3	CTCF	chr9:139622980-139623130	HCFaa	heart:	n/a	chr9:139623078-139623087
4	MAZ	chr9:139622396-139623181	GM12878	blood:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
5	CTCF	chr9:139622940-139623090	GM12869	blood:	n/a	chr9:139623078-139623087
6	POLR2A	chr9:139619685-139623692	GM12892	blood:	n/a	n/a
7	YY1	chr9:139622318-139623282	HepG2	liver:	n/a	chr9:139622810-139622821
8	CTCF	chr9:139622940-139623090	GM12875	blood:	n/a	chr9:139623078-139623087
9	REST	chr9:139621848-139623122	H1-neurons	neurons:	n/a	chr9:139622051-139622061 chr9:139622798-139622811 chr9:139622737-139622747
10	MYC	chr9:139621946-139623591	K562	blood:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
11	CTCF	chr9:139622940-139623090	GM06990	blood:	n/a	chr9:139623078-139623087
12	ESRRA	chr9:139621669-139623501	GM12878	blood:	n/a	chr9:139623204-139623217
13	POLR2A	chr9:139613661-139625070	K562	blood:	n/a	n/a
14	PAX5	chr9:139622287-139623414	GM12892	blood:	n/a	n/a
15	YY1	chr9:139622433-139623211	K562	blood:	n/a	chr9:139622810-139622821
16	MYC	chr9:139622350-139623298	A549	lung:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
17	MAX	chr9:139621946-139623570	HCT-116	colon:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
18	TBL1XR1	chr9:139621962-139623526	K562	blood:	n/a	n/a
19	SIN3AK20	chr9:139619836-139623651	MCF-7	breast:	n/a	n/a
20	FOXA2	chr9:139622432-139623304	A549	lung:	n/a	n/a
21	TAF1	chr9:139622290-139623517	HepG2	liver:	n/a	n/a
22	POLR2A	chr9:139615152-139624044	PFSK-1	brain:	n/a	n/a
23	CTCF	chr9:139623080-139623230	SAEC	small airway:	n/a	n/a
24	MYC	chr9:139622353-139623146	K562	blood:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
25	POLR2A	chr9:139614438-139623107	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr9:139621029-139623177	GM12878	blood:	n/a	n/a
27	CTCF	chr9:139623000-139623150	HCPEpiC	choroid plexus:	n/a	chr9:139623078-139623087
28	BHLHE40	chr9:139622406-139623120	GM12878	blood:	n/a	n/a
29	CTCF	chr9:139622238-139623244	K562	blood:	n/a	chr9:139622710-139622726 chr9:139622709-139622727 chr9:139622746-139622759 chr9:139623078-139623087 chr9:139622711-139622724
30	POLR2A	chr9:139622193-139623522	A549	lung:	n/a	n/a
31	CTCF	chr9:139622980-139623130	AG10803	skin:	n/a	chr9:139623078-139623087
32	CTCF	chr9:139622960-139623110	Caco-2	colon:	n/a	chr9:139623078-139623087
33	CREB1	chr9:139622346-139623483	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:139619861-139623901	K562	blood:	n/a	n/a
35	ELF1	chr9:139621971-139623674	GM12878	blood:	n/a	chr9:139623139-139623151
36	CTCF	chr9:139623000-139623150	HMEC	breast:	n/a	chr9:139623078-139623087
37	MAX	chr9:139621819-139623947	A549	lung:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
38	BHLHE40	chr9:139622482-139623487	K562	blood:	n/a	n/a
39	CTCF	chr9:139623060-139623210	GM12874	blood:	n/a	chr9:139623078-139623087
40	POLR2A	chr9:139619842-139623939	HL-60	blood:	n/a	n/a
41	ZBTB7A	chr9:139622509-139623279	K562	blood:	n/a	n/a
42	MYC	chr9:139622474-139623099	K562	blood:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
43	POLR2A	chr9:139623062-139624119	HCT-116	colon:	n/a	n/a
44	GABPA	chr9:139622435-139623473	H1-hESC	embryonic stem cell:	n/a	chr9:139622742-139622751 chr9:139622744-139622753
45	MYC	chr9:139621907-139623740	K562	blood:	n/a	chr9:139622751-139622760 chr9:139622753-139622762 chr9:139622752-139622759 chr9:139622751-139622761
46	PML	chr9:139621836-139623657	GM12878	blood:	n/a	n/a
47	UBTF	chr9:139622250-139623632	K562	blood:	n/a	n/a
48	CTCF	chr9:139622960-139623110	SAEC	small airway:	n/a	chr9:139623078-139623087
49	UBTF	chr9:139622198-139623667	K562	blood:	n/a	n/a
50	POLR2A	chr9:139619189-139625931	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:139570497..139595051-chr9:139610806..139626266,85	MCF-7	breast:
2	chr9:139564974..139568395-chr9:139620785..139624804,6	MCF-7	breast:
3	chr9:139621081..139623716-chr9:139698573..139702303,4	K562	blood:
4	chr9:139559252..139566873-chr9:139615343..139623790,23	MCF-7	breast:
5	chr9:139619516..139623685-chr9:139693810..139697808,6	K562	blood:
6	chr9:139620315..139626197-chr9:139646581..139660029,24	MCF-7	breast:
7	chr9:139620423..139623520-chr9:139779258..139782010,3	K562	blood:
8	chr9:139616966..139626046-chr9:139651480..139662091,27	MCF-7	breast:
9	chr9:139376700..139379516-chr9:139619052..139623345,7	K562	blood:
10	chr9:139621206..139624482-chr9:139640401..139643595,4	MCF-7	breast:
11	chr9:139619516..139624583-chr9:139694122..139697808,6	K562	blood:
12	chr9:139621166..139623955-chr9:139702630..139705456,7	K562	blood:
13	chr9:139621075..139623829-chr9:139838145..139840956,4	K562	blood:
14	chr9:139621283..139623624-chr9:139709287..139711634,2	K562	blood:
15	chr9:139621177..139623935-chr9:139715647..139719817,3	MCF-7	breast:
16	chr9:139620963..139623863-chr9:139946422..139948967,2	K562	blood:
17	chr9:139586216..139592582-chr9:139618001..139626030,23	MCF-7	breast:
18	chr9:139621166..139623785-chr9:139780041..139782196,3	K562	blood:
19	chr9:139622733..139626444-chr9:139667758..139670003,3	K562	blood:
20	chr9:123963665..123964453-chr9:139622156..139623139,2	NB4	blood:
21	chr9:139376314..139380925-chr9:139621169..139625507,6	MCF-7	breast:
22	chr9:139621264..139624234-chr9:139940317..139942118,2	K562	blood:
23	chr9:139376144..139379676-chr9:139621146..139625438,7	K562	blood:
24	chr9:139306917..139309848-chr9:139622681..139624301,2	K562	blood:
25	chr9:139619929..139623671-chr9:139747589..139752463,5	K562	blood:
26	chr9:139618685..139627120-chr9:139649384..139659403,28	K562	blood:
27	chr9:139550367..139553990-chr9:139620470..139623821,3	MCF-7	breast:
28	chr9:139496776..139498565-chr9:139620965..139623947,2	K562	blood:
29	chr9:139621035..139624561-chr9:139681529..139687287,9	K562	blood:
30	chr9:139621304..139624184-chr9:139872879..139875710,3	K562	blood:
31	chr9:139620788..139624093-chr9:139694172..139695988,3	MCF-7	breast:
32	chr9:139622715..139625177-chr9:140135905..140137548,2	MCF-7	breast:
33	chr7:100026327..100026894-chr9:139622595..139623168,2	Hela-S3	cervix:
34	chr9:139620118..139623932-chr9:139922375..139925511,3	MCF-7	breast:
35	chr9:139620633..139624484-chr9:139701088..139704302,3	MCF-7	breast:
36	chr9:139620467..139623691-chr9:139756256..139761738,5	K562	blood:
37	chr7:84569140..84569977-chr9:139622087..139623308,10	Hela-S3	cervix:
38	chr9:139619899..139624270-chr9:139920948..139923440,3	MCF-7	breast:
39	chr9:139620752..139623162-chr9:139701207..139703819,3	MCF-7	breast:
40	chr9:139622227..139624694-chr9:139741896..139744177,2	MCF-7	breast:
41	chr9:139610819..139629219-chr9:139630372..139645615,53	MCF-7	breast:
42	chr9:139621595..139623211-chr9:139759384..139761536,2	MCF-7	breast:
43	chr9:139621278..139624827-chr9:139660350..139665047,5	K562	blood:
44	chr9:139440721..139444129-chr9:139620823..139623171,3	K562	blood:
45	chr9:139255640..139259795-chr9:139620500..139624170,6	K562	blood:
46	chr9:139257144..139260573-chr9:139620692..139623633,4	K562	blood:
47	chr7:84567429..84570853-chr9:139619029..139623910,14	K562	blood:
48	chr9:139619294..139624280-chr9:139740511..139747015,10	K562	blood:
49	chr16:29802109..29802784-chr9:139622146..139623100,2	Hela-S3	cervix:
50	chr7:84567405..84570854-chr9:139616789..139624022,24	K562	blood:

Variant related genes	Relation type
SNHG7	TF binding region
ENSG00000196642	Chromatin interaction
ENSG00000232019	Chromatin interaction
ENSG00000139437	Chromatin interaction
ENSG00000265806	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000272896	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000273066	Chromatin interaction
ENSG00000177239	Chromatin interaction
ENSG00000268996	Chromatin interaction
ENSG00000127191	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000252440	Chromatin interaction
ENSG00000204003	Chromatin interaction
ENSG00000204001	Chromatin interaction
ENSG00000187922	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000176919	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000199161	Chromatin interaction
ENSG00000079616	Chromatin interaction
ENSG00000177984	Chromatin interaction
ENSG00000184709	Chromatin interaction
ENSG00000265181	Chromatin interaction
ENSG00000236394	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000148400	Chromatin interaction
ENSG00000266507	Chromatin interaction
ENSG00000228544	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000221693	Chromatin interaction
ENSG00000159069	Chromatin interaction
ENSG00000213212	Chromatin interaction
ENSG00000054179	Chromatin interaction
ENSG00000213213	Chromatin interaction
ENSG00000237886	Chromatin interaction
ENSG00000272679	Chromatin interaction
ENSG00000107223	Chromatin interaction
ENSG00000196366	Chromatin interaction
ENSG00000172889	Chromatin interaction
ENSG00000263697	Chromatin interaction
ENSG00000177943	Chromatin interaction
ENSG00000169692	Chromatin interaction
ENSG00000213221	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000107331	Chromatin interaction
ENSG00000107317	Chromatin interaction
ENSG00000244187	Chromatin interaction
ENSG00000267206	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000119396	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12553414	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849811	chr9:138939662-139755001	Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
2	esv1822553	chr9:138967205-139755539	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
3	nsv894326	chr9:139057463-139647074	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	260 gene(s)	inside rSNPs	diseases
4	nsv894337	chr9:139069713-139669111	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
5	esv1851120	chr9:139101947-139711758	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	275 gene(s)	inside rSNPs	diseases
6	nsv430118	chr9:139101947-139795504	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	299 gene(s)	inside rSNPs	diseases
7	nsv894351	chr9:139124856-139679387	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	262 gene(s)	inside rSNPs	diseases
8	nsv540342	chr9:139218422-139973312	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	317 gene(s)	inside rSNPs	diseases
9	esv2758204	chr9:139252829-139826485	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	270 gene(s)	inside rSNPs	diseases
10	esv2759720	chr9:139252829-139826485	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	270 gene(s)	inside rSNPs	diseases
11	nsv469918	chr9:139254317-140068342	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
12	esv1836722	chr9:139301583-139669111	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	esv1799492	chr9:139341612-139711758	Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
14	esv1807611	chr9:139344200-139633839	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
15	nsv540346	chr9:139360142-140164011	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	471 gene(s)	inside rSNPs	diseases
16	esv1803718	chr9:139368953-139643023	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
17	esv1851291	chr9:139371234-139669111	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	200 gene(s)	inside rSNPs	diseases
18	nsv894385	chr9:139376426-139647074	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
19	nsv894386	chr9:139376426-139693992	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	208 gene(s)	inside rSNPs	diseases
20	nsv1039149	chr9:139376829-139991102	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	303 gene(s)	inside rSNPs	diseases
21	esv1820573	chr9:139377938-139643023	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
22	esv1839109	chr9:139377938-139660589	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
23	esv1829857	chr9:139385438-139760041	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
24	esv1819204	chr9:139388365-139758238	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
25	esv1803407	chr9:139393591-139643023	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
26	esv1803979	chr9:139395473-139979276	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
27	esv1831778	chr9:139395473-139979276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
28	esv1821575	chr9:139395473-140068342	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
29	nsv8579	chr9:139399884-139654708	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
30	nsv894392	chr9:139403102-139669111	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
31	nsv894402	chr9:139457506-139634495	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
32	esv2422220	chr9:139478587-140244550	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	454 gene(s)	inside rSNPs	diseases
33	nsv894409	chr9:139483954-139860264	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	209 gene(s)	inside rSNPs	diseases
34	nsv894420	chr9:139487092-139634495	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
35	esv1846227	chr9:139487092-139643023	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
36	esv1794085	chr9:139487092-139649379	Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
37	esv1837438	chr9:139487092-139660589	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
38	nsv894421	chr9:139487092-139669111	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
39	nsv894422	chr9:139487092-139776400	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
40	nsv894428	chr9:139496028-139647074	ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
41	nsv894431	chr9:139522101-139642961	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
42	nsv894432	chr9:139522101-139869914	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	205 gene(s)	inside rSNPs	diseases
43	nsv894439	chr9:139544437-139634495	Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
44	nsv894440	chr9:139544437-139841512	Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
45	nsv894441	chr9:139544437-139860264	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
46	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
47	nsv540348	chr9:139550414-139687876	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
48	nsv894444	chr9:139553723-139627726	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
49	nsv894445	chr9:139556771-139669111	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
50	nsv1043160	chr9:139560991-139665208	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12682856	LCN8	cis	Whole Blood	GTEx
rs12682856	LCN8	cis	Muscle Skeletal	GTEx
rs12682856	LCN8	cis	Stomach	GTEx
rs12682856	LCN8	cis	lung	GTEx
rs12682856	LCN8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139620400-139623400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:139620600-139623800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:139621200-139623400	Active TSS	Lung	lung
4	chr9:139621400-139623200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:139621400-139623200	Active TSS	Ovary	ovary
6	chr9:139621400-139623200	Active TSS	Right Ventricle	heart
7	chr9:139621400-139623200	Active TSS	HSMMtube	muscle
8	chr9:139621400-139623400	Active TSS	Gastric	stomach
9	chr9:139621400-139623600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:139621400-139623600	Active TSS	Psoas Muscle	Psoas
11	chr9:139621400-139623800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr9:139621600-139623200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr9:139621600-139623200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:139621600-139623200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:139621600-139623200	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr9:139621600-139623400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:139621600-139623400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:139621600-139623400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:139621600-139623400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr9:139621600-139623400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:139621600-139623400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:139621600-139623400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:139621600-139623400	Active TSS	Brain Angular Gyrus	brain
24	chr9:139621600-139623400	Active TSS	Brain Hippocampus Middle	brain
25	chr9:139621600-139623400	Active TSS	Esophagus	oesophagus
26	chr9:139621600-139623400	Active TSS	Fetal Intestine Large	intestine
27	chr9:139621600-139623400	Active TSS	Fetal Intestine Small	intestine
28	chr9:139621600-139623400	Active TSS	Left Ventricle	heart
29	chr9:139621600-139623400	Active TSS	NHEK	skin
30	chr9:139621600-139623600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr9:139621600-139623600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:139621600-139623600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:139621600-139623600	Active TSS	Colon Smooth Muscle	Colon
34	chr9:139621600-139623600	Active TSS	Fetal Kidney	kidney
35	chr9:139621600-139623600	Active TSS	HSMM	muscle
36	chr9:139621600-139623600	Active TSS	NH-A	brain
37	chr9:139621600-139623600	Active TSS	NHDF-Ad	bronchial
38	chr9:139621600-139623800	Active TSS	Rectal Smooth Muscle	rectum
39	chr9:139621600-139623800	Active TSS	NHLF	lung
40	chr9:139621600-139624200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr9:139621800-139623200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr9:139621800-139623200	Active TSS	Spleen	Spleen
43	chr9:139621800-139623400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr9:139621800-139623400	Active TSS	Small Intestine	intestine
45	chr9:139621800-139623400	Active TSS	Osteobl	bone
46	chr9:139622000-139623200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr9:139622000-139623200	Active TSS	Fetal Lung	lung
48	chr9:139622000-139623400	Active TSS	Brain Substantia Nigra	brain
49	chr9:139622000-139623800	Active TSS	Primary T cells from cord blood	blood
50	chr9:139622200-139623200	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links