Variant report

Variant	rs6972403
Chromosome Location	chr7:3157476-3157477
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	chr7:3153512..3155575-chr7:3157437..3160421,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10215661	0.83[EUR][1000 genomes]
rs10276557	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10281495	0.83[EUR][1000 genomes]
rs10807823	0.83[EUR][1000 genomes]
rs10951040	0.83[EUR][1000 genomes]
rs11770525	0.87[EUR][1000 genomes]
rs12155183	0.87[EUR][1000 genomes]
rs1825820	0.83[EUR][1000 genomes]
rs1825821	0.83[EUR][1000 genomes]
rs1825822	0.83[EUR][1000 genomes]
rs1976137	0.83[EUR][1000 genomes]
rs4719792	0.83[EUR][1000 genomes]
rs4719802	0.83[EUR][1000 genomes]
rs4719803	0.83[EUR][1000 genomes]
rs4722441	0.83[EUR][1000 genomes]
rs4722442	0.83[EUR][1000 genomes]
rs6461836	0.83[EUR][1000 genomes]
rs6461840	0.83[EUR][1000 genomes]
rs6461844	0.83[EUR][1000 genomes]
rs6949557	0.83[EUR][1000 genomes]
rs6967557	0.83[EUR][1000 genomes]
rs7799188	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs936902	0.83[EUR][1000 genomes]
rs9986888	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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
2	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1020680	chr7:3125512-3204521	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1027945	chr7:3125512-3208071	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1015656	chr7:3131821-3321353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1023566	chr7:3134090-3159323	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv605877	chr7:3134593-3157702	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1027009	chr7:3141609-3311344	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv538658	chr7:3141609-3311344	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv433013	chr7:3148898-3191654	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv605878	chr7:3149419-3183657	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv464263	chr7:3151177-3169494	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv605879	chr7:3151177-3169494	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3154600-3158200	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:3154800-3158800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:3155200-3157800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:3155200-3158200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:3155200-3158800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:3156200-3158000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:3156400-3157600	Enhancers	Pancreas	Pancrea
8	chr7:3156400-3158000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:3156800-3157800	Active TSS	Primary T cells from cord blood	blood
10	chr7:3157000-3157800	Active TSS	Primary T cells fromperipheralblood	blood
11	chr7:3157000-3157800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:3157000-3157800	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr7:3157200-3157600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
14	chr7:3157200-3157600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr7:3157200-3157600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr7:3157200-3157800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:3157200-3157800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:3157200-3158000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:3157200-3158000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:3157400-3157600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr7:3157400-3157800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:3157400-3157800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:3157400-3157800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr7:3157400-3157800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:3157400-3157800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr7:3157400-3157800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:3157400-3158000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:3157400-3158000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:3157400-3158000	Enhancers	Fetal Thymus	thymus
30	chr7:3157400-3160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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