Variant report

Variant	rs4880132
Chromosome Location	chr9:139614929-139614930
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:139614846-139614949	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr9:139614704-139615174	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:139613661-139625070	K562	blood:	n/a	n/a
4	POLR2A	chr9:139614431-139618473	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr9:139613479-139619200	HL-60	blood:	n/a	n/a
6	POLR2A	chr9:139614550-139618801	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr9:139613548-139618781	A549	lung:	n/a	n/a
8	POLR2A	chr9:139614438-139623107	H1-hESC	embryonic stem cell:	n/a	n/a
9	PBX3	chr9:139614519-139619159	A549	lung:	n/a	n/a
10	RCOR1	chr9:139614816-139614960	Hela-S3	cervix:	n/a	n/a
11	ZBTB7A	chr9:139614610-139615006	K562	blood:	n/a	n/a
12	POLR2A	chr9:139614877-139615014	GM12878	blood:	n/a	n/a
13	POLR2A	chr9:139614325-139615050	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr9:139614776-139615032	HepG2	liver:	n/a	n/a
15	POLR2A	chr9:139614441-139624589	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr9:139614770-139614981	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:139614640-139615523	HL-60	blood:	n/a	n/a
18	POLR2A	chr9:139614538-139614947	MCF-7	breast:	n/a	n/a
19	POLR2A	chr9:139611785-139624497	K562	blood:	n/a	n/a
20	BCL3	chr9:139614308-139614965	A549	lung:	n/a	chr9:139614766-139614775
21	POLR2A	chr9:139614805-139619741	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr9:139614643-139615026	A549	lung:	n/a	n/a
23	POLR2A	chr9:139614461-139623997	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr9:139614661-139615040	A549	lung:	n/a	n/a
25	POLR2A	chr9:139614479-139619213	U87	brain:	n/a	n/a
26	ZNF263	chr9:139614665-139614976	HEK293-T-REx	kidney:	n/a	chr9:139614812-139614821
27	ZBTB7A	chr9:139614622-139615333	ECC-1	luminal epithelium:	n/a	n/a
28	JUND	chr9:139613532-139618727	A549	lung:	n/a	chr9:139614795-139614804 chr9:139614726-139614733
29	POLR2A	chr9:139614528-139619265	U87	brain:	n/a	n/a
30	POLR2A	chr9:139614456-139622946	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr9:139611723-139619080	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr9:139614476-139615014	A549	lung:	n/a	n/a
33	BCL3	chr9:139614313-139619133	A549	lung:	n/a	chr9:139614766-139614775
34	POLR2A	chr9:139614741-139615000	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr9:139613727-139619526	K562	blood:	n/a	n/a
36	POLR2A	chr9:139614561-139615133	ProgFib	skin:	n/a	n/a
37	POLR2A	chr9:139614774-139615081	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr9:139613202-139623139	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr9:139614588-139619525	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr9:139614240-139615135	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr9:139614262-139619147	HepG2	liver:	n/a	n/a
42	CTBP2	chr9:139614869-139615121	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr9:139612312-139618768	MCF-7	breast:	n/a	n/a
44	POLR2A	chr9:139614780-139615020	K562	blood:	n/a	n/a
45	POLR2A	chr9:139613586-139619057	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr9:139614782-139614941	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:139570497..139595051-chr9:139610806..139626266,85	MCF-7	breast:
2	chr9:139612680..139614958-chr9:139653877..139656108,2	MCF-7	breast:
3	chr9:139559979..139565136-chr9:139614649..139620376,8	MCF-7	breast:
4	chr9:139377399..139379654-chr9:139614887..139617974,3	MCF-7	breast:
5	chr9:139610819..139629219-chr9:139630372..139645615,53	MCF-7	breast:
6	chr1:156827380..156828900-chr9:139614679..139617575,2	K562	blood:
7	chr9:139558235..139561310-chr9:139612074..139615132,3	MCF-7	breast:
8	chr9:139614007..139616521-chr9:139774313..139776495,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM69B	TF binding region
ENSG00000199161	Chromatin interaction
ENSG00000196366	Chromatin interaction
ENSG00000187922	Chromatin interaction
ENSG00000267206	Chromatin interaction
ENSG00000127191	Chromatin interaction
ENSG00000027644	Chromatin interaction
ENSG00000172889	Chromatin interaction
ENSG00000221693	Chromatin interaction
ENSG00000204003	Chromatin interaction
ENSG00000169692	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11145843	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12554709	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4880133	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4880135	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67957838	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9411224	0.84[EUR][1000 genomes]
rs9411225	0.85[EUR][1000 genomes]
rs9411269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:78 , 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	esv1835929	chr9:139376426-139617836	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
19	nsv894383	chr9:139376426-139620311	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	156 gene(s)	inside rSNPs	diseases
20	nsv894384	chr9:139376426-139622024	Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	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
25	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
26	esv1810467	chr9:139380320-139617985	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	nsv894394	chr9:139403770-139620311	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
36	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
37	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
38	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
39	nsv1053781	chr9:139485146-139617379	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
40	nsv894419	chr9:139487092-139620311	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
41	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
42	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
43	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
44	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
45	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
46	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
47	nsv894423	chr9:139487347-139620311	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
48	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
49	nsv466679	chr9:139513538-139617836	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
50	nsv615978	chr9:139513538-139617836	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong 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	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4880132	LCN8	cis	Nerve Tibial	GTEx
rs4880132	LCN8	cis	Muscle Skeletal	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139606600-139618000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr9:139607200-139617400	Weak transcription	Aorta	Aorta
3	chr9:139608000-139617000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:139608200-139617200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:139608200-139620400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:139608400-139615800	Weak transcription	Gastric	stomach
7	chr9:139608400-139617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:139608400-139617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:139608400-139617800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:139608600-139616400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:139608600-139616800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:139608800-139617200	Weak transcription	K562	blood
13	chr9:139608800-139617800	Weak transcription	HepG2	liver
14	chr9:139609400-139615800	Weak transcription	Pancreas	Pancrea
15	chr9:139611800-139615400	Weak transcription	Primary T cells from cord blood	blood
16	chr9:139611800-139616000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:139612600-139615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:139612600-139615400	Weak transcription	Thymus	Thymus
19	chr9:139612600-139616600	Enhancers	HUVEC	blood vessel
20	chr9:139612600-139620400	Genic enhancers	Fetal Intestine Small	intestine
21	chr9:139612800-139615200	Enhancers	Primary B cells from peripheral blood	blood
22	chr9:139613000-139615200	Enhancers	Fetal Muscle Trunk	muscle
23	chr9:139613000-139615600	Enhancers	Placenta	Placenta
24	chr9:139613000-139615800	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:139613000-139616800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:139613200-139615000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr9:139613400-139615000	Enhancers	Duodenum Mucosa	Duodenum
28	chr9:139613600-139615000	Enhancers	Fetal Muscle Leg	muscle
29	chr9:139613600-139615800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr9:139613600-139615800	Enhancers	Adipose Nuclei	Adipose
31	chr9:139613600-139617400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:139613600-139618400	Weak transcription	Small Intestine	intestine
33	chr9:139613600-139620000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:139613800-139615000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:139613800-139615000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:139613800-139615200	Enhancers	Right Ventricle	heart
37	chr9:139613800-139615400	Enhancers	Lung	lung
38	chr9:139613800-139616200	Genic enhancers	Fetal Stomach	stomach
39	chr9:139613800-139616200	Enhancers	Stomach Mucosa	stomach
40	chr9:139613800-139616800	Enhancers	Fetal Brain Male	brain
41	chr9:139613800-139617600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr9:139614000-139615200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:139614000-139615200	Enhancers	Brain Hippocampus Middle	brain
44	chr9:139614000-139615400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:139614000-139615400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr9:139614000-139615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:139614000-139615600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr9:139614000-139615800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:139614000-139615800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:139614000-139616000	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links