Variant report

Variant	rs11972223
Chromosome Location	chr7:150360056-150360057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150345053..150347622-chr7:150357976..150360904,2	MCF-7	breast:
2	chr7:150359279..150361425-chr7:150361941..150364354,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11973850	1.00[EUR][1000 genomes]
rs11977022	1.00[EUR][1000 genomes]
rs11977474	1.00[EUR][1000 genomes]
rs11977772	1.00[EUR][1000 genomes]
rs11981041	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11983363	1.00[EUR][1000 genomes]
rs11983983	1.00[EUR][1000 genomes]
rs28375807	1.00[EUR][1000 genomes]
rs28651123	1.00[EUR][1000 genomes]
rs28690331	1.00[EUR][1000 genomes]
rs57716148	1.00[EUR][1000 genomes]
rs58281055	1.00[EUR][1000 genomes]
rs59056007	1.00[EUR][1000 genomes]
rs59483069	1.00[EUR][1000 genomes]
rs59997037	1.00[EUR][1000 genomes]
rs73478442	1.00[EUR][1000 genomes]
rs7788154	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7788229	1.00[EUR][1000 genomes]
rs7807202	1.00[EUR][1000 genomes]
rs7808266	1.00[EUR][1000 genomes]
rs9969122	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv970967	chr7:150359145-150361050	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150354800-150362000	Weak transcription	Right Atrium	heart
2	chr7:150355800-150360800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:150357600-150365000	Enhancers	Primary T cells from cord blood	blood
4	chr7:150358000-150360800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:150358000-150360800	Enhancers	Dnd41	blood
6	chr7:150358000-150365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:150358000-150369000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:150358200-150360800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:150358200-150360800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:150358200-150360800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:150358200-150360800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:150358200-150360800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:150358200-150360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:150358400-150360800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:150358600-150365600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:150358800-150360600	Weak transcription	Fetal Thymus	thymus
17	chr7:150358800-150360800	Enhancers	GM12878-XiMat	blood
18	chr7:150358800-150362200	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:150359400-150360400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:150359400-150360400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:150359400-150360600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:150359400-150366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:150359800-150363400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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