Variant report

Variant	rs3194051
Chromosome Location	chr5:35876274-35876275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10491434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491435	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1053496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11567685	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11567699	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11567701	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11567751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949736	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11950831	0.80[EUR][1000 genomes]
rs11960511	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382347	1.00[JPT][hapmap]
rs1494554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1603071	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16902573	0.85[EUR][1000 genomes]
rs17376481	1.00[JPT][hapmap]
rs1833907	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs2287900	0.85[EUR][1000 genomes]
rs3822733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4024110	0.82[EUR][1000 genomes]
rs55654952	0.85[EUR][1000 genomes]
rs56133736	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57217480	0.80[EUR][1000 genomes]
rs57545288	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62351973	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62355269	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62355271	0.92[EUR][1000 genomes]
rs62355272	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67207043	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6871116	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6872631	0.85[CEU][hapmap]
rs6893803	0.85[CEU][hapmap]
rs700179	0.86[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702828	0.84[EUR][1000 genomes]
rs7705615	0.85[EUR][1000 genomes]
rs7733008	0.80[EUR][1000 genomes]
rs9292614	0.84[CEU][hapmap];0.95[TSI][hapmap]
rs9764914	0.85[EUR][1000 genomes]
rs987107	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990716	0.88[CEU][hapmap];0.84[GIH][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv471011	chr5:35861068-36003217	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830261	chr5:35863084-36018048	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Ulcerative colitis	21297633	GWAS catalog

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35860000-35876600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:35860400-35883800	Weak transcription	Small Intestine	intestine
3	chr5:35864600-35876600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:35866200-35878400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:35866600-35878800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:35866600-35882000	Genic enhancers	Dnd41	blood
7	chr5:35867600-35878000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:35867800-35876400	Strong transcription	NHLF	lung
9	chr5:35867800-35879800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:35869200-35876600	Weak transcription	HMEC	breast
11	chr5:35869400-35876600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:35870600-35878200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:35873200-35876400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:35873200-35880200	Genic enhancers	Primary T cells from cord blood	blood
15	chr5:35873200-35880200	Genic enhancers	Thymus	Thymus
16	chr5:35873400-35880000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:35873600-35876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:35873600-35878000	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr5:35874400-35876600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:35874400-35878400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:35875200-35876400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:35875400-35876600	Strong transcription	Osteobl	bone
23	chr5:35875400-35878000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:35875400-35878200	Strong transcription	HSMM	muscle
25	chr5:35875400-35883200	Genic enhancers	Fetal Thymus	thymus
26	chr5:35875600-35877800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:35875800-35876400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:35875800-35876400	ZNF genes & repeats	Lung	lung
29	chr5:35875800-35876600	Enhancers	GM12878-XiMat	blood
30	chr5:35875800-35876800	Enhancers	Hela-S3	cervix
31	chr5:35875800-35877200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:35876000-35877600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:35876200-35876600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:35876200-35877000	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:35876200-35877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:35876200-35878000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:35876200-35878000	Enhancers	NHDF-Ad	bronchial

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