Variant report

Variant	rs61595700
Chromosome Location	chr7:2996802-2996803
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	chr7:2995128..2998225-chr7:3000156..3002896,4	K562	blood:
2	chr7:2989552..2992141-chr7:2994341..2996900,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2894775	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41490647	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56822504	1.00[ASN][1000 genomes]
rs6952372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957807	0.93[AFR][1000 genomes]
rs6966278	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972173	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73287242	1.00[ASN][1000 genomes]
rs73288564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780173	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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
4	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2968600-2999400	Weak transcription	Right Atrium	heart
2	chr7:2980000-2999800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:2989800-2997800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:2991000-2997200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:2991800-2997000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr7:2991800-2999000	Strong transcription	Thymus	Thymus
7	chr7:2992000-2997800	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr7:2992200-3000400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:2992200-3000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:2992400-2997200	Enhancers	HMEC	breast
11	chr7:2992400-2999000	Strong transcription	GM12878-XiMat	blood
12	chr7:2992600-2997200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:2992600-2997200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:2993400-2997200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:2993600-2997000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:2994400-2998400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:2994400-2998800	Strong transcription	Primary B cells from cord blood	blood
18	chr7:2995000-2999200	Enhancers	Placenta	Placenta
19	chr7:2995200-2997000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:2995200-2997200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:2995200-2997200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:2995200-2999800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:2995400-2997800	Weak transcription	Spleen	Spleen
24	chr7:2995400-3000200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr7:2995600-2998600	Strong transcription	Primary T cells from cord blood	blood
26	chr7:2995600-2998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:2995800-2997200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:2995800-2997200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:2996000-2997000	Enhancers	A549	lung
30	chr7:2996000-2997000	Enhancers	HUVEC	blood vessel
31	chr7:2996000-2997000	Flanking Active TSS	K562	blood
32	chr7:2996000-2997000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr7:2996200-2997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:2996200-2997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:2996200-2997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:2996200-2998600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:2996400-2997000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:2996400-2997000	Enhancers	HSMMtube	muscle
39	chr7:2996400-2998600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:2996600-2997000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:2996600-2997000	Enhancers	Esophagus	oesophagus
42	chr7:2996600-2997000	Genic enhancers	Fetal Thymus	thymus
43	chr7:2996600-2997000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr7:2996600-2999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:2996800-2997000	Enhancers	Duodenum Mucosa	Duodenum
46	chr7:2996800-2997200	Enhancers	NHEK	skin
47	chr7:2996800-2999000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:2996800-2999000	Strong transcription	Fetal Intestine Small	intestine
49	chr7:2996800-2999800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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