Variant report

Variant	rs7431417
Chromosome Location	chr3:111329799-111329800
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11719437	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs17281304	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17281318	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs62275484	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275486	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62275509	0.82[AMR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111324400-111336800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:111326200-111330600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:111328200-111330200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:111328400-111329800	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:111328400-111330400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr3:111328600-111329800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:111328600-111329800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:111328600-111329800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:111328600-111329800	Enhancers	Fetal Thymus	thymus
10	chr3:111328600-111329800	Enhancers	GM12878-XiMat	blood
11	chr3:111328600-111330000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:111328600-111330000	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr3:111328600-111330200	Enhancers	Primary B cells from cord blood	blood
14	chr3:111328800-111329800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:111329200-111329800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr3:111329200-111329800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:111329200-111329800	Active TSS	NHEK	skin
18	chr3:111329200-111330000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:111329200-111330200	Enhancers	Thymus	Thymus
20	chr3:111329400-111329800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:111329400-111329800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr3:111329400-111329800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr3:111329400-111329800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr3:111329400-111330000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr3:111329400-111330200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:111329400-111330600	Enhancers	Primary hematopoietic stem cells	blood
27	chr3:111329600-111329800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:111329600-111329800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:111329600-111330600	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr3:111329600-111330800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:111329600-111330800	Enhancers	HMEC	breast
32	chr3:111329600-111331000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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