Variant report

Variant	rs2229232
Chromosome Location	chr5:35876449-35876450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10472267	0.84[JPT][hapmap]
rs11567703	1.00[YRI][hapmap]
rs11567715	0.84[JPT][hapmap];1.00[EUR][1000 genomes]
rs11567716	1.00[YRI][hapmap]
rs11567719	1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes]
rs11567723	1.00[EUR][1000 genomes]
rs11567736	1.00[YRI][hapmap]
rs11567744	1.00[YRI][hapmap]
rs11567753	1.00[YRI][hapmap]
rs16902614	0.84[JPT][hapmap];1.00[EUR][1000 genomes]
rs16902660	0.82[JPT][hapmap];0.87[MKK][hapmap]
rs16902661	0.85[CHD][hapmap];0.82[JPT][hapmap];0.87[MKK][hapmap]
rs2172750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2287899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2361394	1.00[MKK][hapmap]
rs3777089	0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4869444	0.82[JPT][hapmap]
rs6889806	1.00[YRI][hapmap]
rs968833	1.00[AMR][1000 genomes];1.00[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

No data

Chromatin state (count:40 , 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	chr5:35867800-35879800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr5:35869200-35876600	Weak transcription	HMEC	breast
10	chr5:35869400-35876600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:35870600-35878200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:35873200-35880200	Genic enhancers	Primary T cells from cord blood	blood
13	chr5:35873200-35880200	Genic enhancers	Thymus	Thymus
14	chr5:35873400-35880000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:35873600-35878000	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr5:35874400-35876600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:35874400-35878400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:35875400-35876600	Strong transcription	Osteobl	bone
19	chr5:35875400-35878000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:35875400-35878200	Strong transcription	HSMM	muscle
21	chr5:35875400-35883200	Genic enhancers	Fetal Thymus	thymus
22	chr5:35875600-35877800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:35875800-35876600	Enhancers	GM12878-XiMat	blood
24	chr5:35875800-35876800	Enhancers	Hela-S3	cervix
25	chr5:35875800-35877200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:35876000-35877600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:35876200-35876600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:35876200-35877000	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:35876200-35877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:35876200-35878000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:35876200-35878000	Enhancers	NHDF-Ad	bronchial
32	chr5:35876400-35876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:35876400-35876800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr5:35876400-35877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:35876400-35877000	Enhancers	HUVEC	blood vessel
36	chr5:35876400-35877400	Genic enhancers	NHLF	lung
37	chr5:35876400-35877600	Weak transcription	Lung	lung
38	chr5:35876400-35877800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:35876400-35878200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:35876400-35878200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

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