Variant report

Variant	rs2784043
Chromosome Location	chr9:139685722-139685723
allele	A/G
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	PML	chr9:139685678-139685824	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:139685666-139686040	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:139685542-139686485	MCF-7	breast:	n/a	n/a
4	POLR2A	chr9:139685637-139686047	GM15510	blood:	n/a	n/a
5	MAZ	chr9:139685083-139686507	Hela-S3	cervix:	n/a	chr9:139685649-139685659
6	YY1	chr9:139685660-139686000	HepG2	liver:	n/a	n/a
7	POLR2A	chr9:139685625-139686490	A549	lung:	n/a	n/a
8	BRCA1	chr9:139684991-139685908	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr9:139685683-139686135	GM12878	blood:	n/a	n/a
10	TBP	chr9:139685025-139686472	K562	blood:	n/a	n/a
11	E2F6	chr9:139685597-139686489	H1-hESC	embryonic stem cell:	n/a	chr9:139685648-139685657 chr9:139685786-139685795
12	MAZ	chr9:139685084-139686634	K562	blood:	n/a	chr9:139685649-139685659
13	POLR2A	chr9:139685621-139686011	HUVEC	blood vessel:	n/a	n/a
14	E2F6	chr9:139684999-139686504	A549	lung:	n/a	chr9:139685648-139685657 chr9:139685786-139685795
15	REST	chr9:139685709-139685979	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr9:139685656-139685980	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr9:139685704-139685792	K562	blood:	n/a	n/a
18	NRF1	chr9:139685149-139685993	GM12878	blood:	n/a	chr9:139685785-139685799 chr9:139685787-139685796 chr9:139685788-139685802 chr9:139685487-139685501 chr9:139685785-139685796 chr9:139685648-139685657 chr9:139685782-139685796 chr9:139685486-139685495 chr9:139685785-139685796 chr9:139685484-139685498
19	IRF1	chr9:139685670-139686483	K562	blood:	n/a	n/a
20	POLR2A	chr9:139685676-139686014	A549	lung:	n/a	n/a
21	POLR2A	chr9:139685707-139685922	GM12892	blood:	n/a	n/a
22	ELK1	chr9:139685633-139685968	Hela-S3	cervix:	n/a	n/a
23	TAF1	chr9:139685570-139686456	MCF-7	breast:	n/a	n/a
24	ATF3	chr9:139685626-139685930	K562	blood:	n/a	chr9:139685648-139685657
25	MAX	chr9:139684986-139686521	MCF-7	breast:	n/a	chr9:139685649-139685659
26	POLR2A	chr9:139685652-139686079	GM18505	blood:	n/a	n/a
27	YY1	chr9:139685607-139685997	HCT-116	colon:	n/a	chr9:139685648-139685657 chr9:139685646-139685660 chr9:139685654-139685663
28	POLR2A	chr9:139685599-139686106	Gliobla	brain:	n/a	n/a
29	MAX	chr9:139685019-139686530	MCF-7	breast:	n/a	chr9:139685649-139685659
30	POLR2A	chr9:139685656-139686030	GM19193	blood:	n/a	n/a
31	MAZ	chr9:139685066-139686591	GM12878	blood:	n/a	chr9:139685649-139685659
32	POLR2A	chr9:139685649-139686002	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr9:139685682-139686004	GM12892	blood:	n/a	n/a
34	MAX	chr9:139685161-139686370	HepG2	liver:	n/a	chr9:139685649-139685659
35	JUND	chr9:139685545-139686012	A549	lung:	n/a	chr9:139685799-139685808
36	E2F6	chr9:139685539-139686588	H1-hESC	embryonic stem cell:	n/a	chr9:139685648-139685657 chr9:139685786-139685795
37	ELK1	chr9:139685598-139685837	GM12878	blood:	n/a	n/a
38	POLR2A	chr9:139685646-139686034	NB4	blood:	n/a	n/a
39	POLR2A	chr9:139685678-139686482	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr9:139685660-139685940	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr9:139685088-139686519	K562	blood:	n/a	n/a
42	YY1	chr9:139685671-139685936	K562	blood:	n/a	n/a
43	MAX	chr9:139685094-139686117	SK-N-SH	brain:	n/a	chr9:139685649-139685659
44	MAX	chr9:139685536-139686540	ECC-1	luminal epithelium:	n/a	chr9:139685649-139685659
45	EGR1	chr9:139685229-139685897	K562	blood:	n/a	chr9:139685297-139685310 chr9:139685649-139685662 chr9:139685786-139685795 chr9:139685563-139685577 chr9:139685413-139685426 chr9:139685650-139685660 chr9:139685648-139685663 chr9:139685647-139685657 chr9:139685590-139685604
46	MXI1	chr9:139685040-139687172	IMR90	lung:	n/a	chr9:139687092-139687101 chr9:139687090-139687099
47	REST	chr9:139685655-139686014	PFSK-1	brain:	n/a	n/a
48	CTCF	chr9:139685712-139685813	Spleen_OC	spleen:	n/a	n/a
49	PAX5	chr9:139685223-139686078	GM12878	blood:	n/a	n/a
50	POLR2A	chr9:139685477-139686157	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:139683844..139686178-chr9:139749030..139751870,2	MCF-7	breast:
2	chr9:139683536..139687591-chr9:139921894..139924460,4	MCF-7	breast:
3	chr9:139683659..139687292-chr9:139920616..139923884,4	MCF-7	breast:
4	chr9:139375786..139378858-chr9:139684688..139686351,3	MCF-7	breast:
5	chr9:139683448..139687043-chr9:139724439..139728151,3	MCF-7	breast:
6	chr9:139684658..139687578-chr9:139740553..139743920,5	K562	blood:
7	chr9:139684238..139687578-chr9:139742280..139744165,4	K562	blood:
8	chr9:139683825..139687268-chr9:139871414..139874835,3	K562	blood:
9	chr9:139621035..139624561-chr9:139681529..139687287,9	K562	blood:
10	chr9:139621216..139622875-chr9:139685230..139687360,2	MCF-7	breast:
11	chr9:139685378..139687271-chr9:139915052..139917495,3	MCF-7	breast:
12	chr9:139377008..139379859-chr9:139684453..139686903,3	MCF-7	breast:
13	chr9:139685391..139688312-chr9:139795592..139798395,3	MCF-7	breast:
14	chr9:139685199..139687807-chr9:139878255..139880218,2	MCF-7	breast:
15	chr9:139684892..139687578-chr9:139837356..139841601,5	MCF-7	breast:
16	chr9:139684091..139686797-chr9:139779339..139782193,3	K562	blood:
17	chr9:139684839..139687692-chr9:140133379..140136351,2	K562	blood:
18	chr9:139655064..139662123-chr9:139682792..139687315,8	K562	blood:
19	chr9:139620499..139624602-chr9:139683512..139688148,14	K562	blood:
20	chr9:139684641..139688491-chr9:139944424..139947811,3	K562	blood:
21	chr9:139655316..139662123-chr9:139682792..139687315,9	K562	blood:
22	chr9:139684739..139686242-chr9:139947463..139949767,2	MCF-7	breast:
23	chr9:139685272..139687236-chr9:139783437..139786045,2	MCF-7	breast:
24	chr9:139684091..139687398-chr9:139780288..139782193,3	K562	blood:
25	chr9:139685305..139687370-chr9:139885305..139886970,2	MCF-7	breast:
26	chr9:139685184..139687112-chr9:139923073..139925089,2	K562	blood:
27	chr9:139685045..139687775-chr9:139838528..139840680,3	MCF-7	breast:
28	chr9:139683956..139686805-chr9:139759476..139762269,2	K562	blood:
29	chr9:139682478..139689029-chr9:139739017..139745111,14	MCF-7	breast:
30	chr9:139684566..139686323-chr9:139837681..139839181,2	K562	blood:
31	chr9:139685272..139686894-chr9:139719097..139721634,2	K562	blood:
32	chr9:139684905..139687555-chr9:139781430..139784355,2	MCF-7	breast:
33	chr9:139684580..139687679-chr9:139885169..139891093,6	MCF-7	breast:
34	chr9:139683838..139686879-chr9:140133317..140137174,3	MCF-7	breast:
35	chr9:139684319..139687155-chr9:139837681..139840267,3	K562	blood:
36	chr9:139685326..139687361-chr9:139939628..139942072,2	MCF-7	breast:
37	chr9:139681106..139687354-chr9:139701145..139707280,8	K562	blood:
38	chr9:139685015..139687198-chr9:139901432..139904187,2	MCF-7	breast:
39	chr9:139682195..139706361-chr9:139728316..139752024,110	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272896	TF binding region
TMEM141	TF binding region
ENSG00000233016	Chromatin interaction
ENSG00000159069	Chromatin interaction
ENSG00000265806	Chromatin interaction
ENSG00000228544	Chromatin interaction
ENSG00000232434	Chromatin interaction
ENSG00000266507	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000148362	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000196366	Chromatin interaction
ENSG00000107331	Chromatin interaction
ENSG00000177943	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000236394	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000177984	Chromatin interaction
ENSG00000213213	Chromatin interaction
ENSG00000176919	Chromatin interaction
ENSG00000107317	Chromatin interaction
ENSG00000214402	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000127191	Chromatin interaction
ENSG00000054179	Chromatin interaction
ENSG00000107223	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1806711	0.80[AMR][1000 genomes]
rs2784042	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784058	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2784061	0.87[ASN][1000 genomes]
rs2811774	0.80[ASN][1000 genomes]
rs2811775	0.87[ASN][1000 genomes]
rs2811776	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2811780	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2811787	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811789	0.84[EUR][1000 genomes]
rs7853798	0.94[ASN][1000 genomes]
rs7871359	0.95[ASN][1000 genomes]
rs884519	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	nsv894450	chr9:139598108-139776400	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	130 gene(s)	inside rSNPs	diseases
27	nsv894451	chr9:139598108-139995065	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
28	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
29	nsv894454	chr9:139607966-139904037	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	172 gene(s)	inside rSNPs	diseases
30	nsv894455	chr9:139607966-140411547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers 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	417 gene(s)	inside rSNPs	diseases
31	nsv1051605	chr9:139620105-139728697	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
32	nsv540350	chr9:139620105-139728697	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS 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	108 gene(s)	inside rSNPs	diseases
33	nsv818738	chr9:139634495-139904037	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS 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	126 gene(s)	inside rSNPs	diseases
34	nsv466681	chr9:139647074-139693992	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
35	nsv615982	chr9:139647074-139693992	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
36	nsv894457	chr9:139650448-139776400	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
37	nsv540351	chr9:139664948-139703627	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
38	nsv523639	chr9:139669111-139690144	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
39	nsv894458	chr9:139683224-139776400	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
40	nsv894459	chr9:139683224-139787453	Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
41	nsv894460	chr9:139683224-139810595	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
42	nsv894461	chr9:139683224-139860264	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
43	nsv894462	chr9:139683224-140274164	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	353 gene(s)	inside rSNPs	diseases
44	nsv894463	chr9:139683224-140411547	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2784043	LCN8	cis	Muscle Skeletal	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139681800-139685800	Enhancers	Stomach Mucosa	stomach
2	chr9:139683400-139685800	Enhancers	Liver	Liver
3	chr9:139683400-139685800	Weak transcription	Right Atrium	heart
4	chr9:139683600-139685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:139683600-139685800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:139683800-139685800	Weak transcription	Small Intestine	intestine
7	chr9:139684000-139685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:139684200-139685800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:139684400-139685800	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:139684600-139685800	Enhancers	Primary hematopoietic stem cells	blood
11	chr9:139684600-139685800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:139684600-139685800	Enhancers	Fetal Thymus	thymus
13	chr9:139684600-139685800	Enhancers	Rectal Smooth Muscle	rectum
14	chr9:139684800-139685800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:139684800-139685800	Enhancers	Stomach Smooth Muscle	stomach
16	chr9:139684800-139685800	Enhancers	HUVEC	blood vessel
17	chr9:139684800-139686000	Active TSS	Brain Germinal Matrix	brain
18	chr9:139685000-139685800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:139685000-139685800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:139685000-139685800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:139685000-139685800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr9:139685000-139686000	Active TSS	Colonic Mucosa	Colon
23	chr9:139685200-139685800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:139685200-139685800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:139685200-139685800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:139685200-139685800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:139685200-139685800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:139685200-139685800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:139685200-139685800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:139685200-139685800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:139685200-139685800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:139685200-139685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:139685200-139685800	Active TSS	Primary B cells from cord blood	blood
34	chr9:139685200-139685800	Enhancers	Primary T cells from cord blood	blood
35	chr9:139685200-139685800	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr9:139685200-139685800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr9:139685200-139685800	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr9:139685200-139685800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr9:139685200-139685800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:139685200-139685800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:139685200-139685800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr9:139685200-139685800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:139685200-139685800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:139685200-139685800	Active TSS	Adipose Nuclei	Adipose
45	chr9:139685200-139685800	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:139685200-139685800	Weak transcription	Brain Substantia Nigra	brain
47	chr9:139685200-139685800	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:139685200-139685800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:139685200-139685800	Weak transcription	Fetal Heart	heart
50	chr9:139685200-139685800	Weak transcription	Fetal Intestine Large	intestine

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