Variant report

Variant	rs7626279
Chromosome Location	chr3:196331714-196331715
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196330668..196333087-chr3:196668917..196671196,2	MCF-7	breast:
2	chr3:196330580..196333990-chr3:196334226..196339571,6	K562	blood:
3	chr3:196294079..196295923-chr3:196330466..196332275,2	MCF-7	breast:
4	chr3:196330451..196332682-chr3:196412539..196415044,2	MCF-7	breast:
5	chr3:196330681..196333138-chr3:196437069..196438594,2	K562	blood:

Variant related genes	Relation type
ENSG00000114503	Chromatin interaction
ENSG00000185798	Chromatin interaction
ENSG00000270170	Chromatin interaction
ENSG00000174013	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11715619	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4916526	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6583330	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7629845	0.82[LWK][hapmap];0.91[YRI][hapmap]
rs9846777	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats 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	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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 target site	47 gene(s)	inside rSNPs	diseases
7	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196325400-196336400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:196327000-196336800	Weak transcription	Gastric	stomach
3	chr3:196329600-196336200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:196330400-196331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:196330400-196331800	Bivalent Enhancer	HepG2	liver
6	chr3:196330600-196331800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:196330600-196332200	Enhancers	Fetal Thymus	thymus
8	chr3:196330800-196331800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr3:196330800-196331800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr3:196330800-196336000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:196331000-196336400	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:196331200-196331800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:196331200-196331800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr3:196331400-196331800	Active TSS	Brain Anterior Caudate	brain
15	chr3:196331400-196331800	Enhancers	Thymus	Thymus
16	chr3:196331400-196336200	Weak transcription	Primary T cells from cord blood	blood
17	chr3:196331400-196336200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:196331400-196336600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:196331600-196331800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:196331600-196331800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:196331600-196331800	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:196331600-196336000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:196331600-196336200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:196331600-196336200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:196331600-196336400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:196331600-196336400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:196331600-196336400	Weak transcription	K562	blood

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