Variant report

Variant	rs7590947
Chromosome Location	chr2:30557881-30557882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30557559..30558135-chr2:30934208..30934782,2	MCF-7	breast:
2	chr2:30552317..30554579-chr2:30556259..30558037,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11127272	1.00[EUR][1000 genomes]
rs17009351	1.00[EUR][1000 genomes]
rs4324357	1.00[EUR][1000 genomes]
rs4328679	1.00[EUR][1000 genomes]
rs4352268	1.00[EUR][1000 genomes]
rs56917916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57627825	1.00[EUR][1000 genomes]
rs6741590	1.00[EUR][1000 genomes]
rs6752917	1.00[EUR][1000 genomes]
rs72865603	1.00[EUR][1000 genomes]
rs73923292	1.00[EUR][1000 genomes]
rs73925128	1.00[EUR][1000 genomes]
rs9784037	0.83[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30553600-30559600	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30553800-30559400	Enhancers	Primary T cells from cord blood	blood
3	chr2:30554000-30559600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:30554200-30569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:30555000-30558200	Enhancers	Primary B cells from cord blood	blood
6	chr2:30555000-30559600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:30555000-30559800	Enhancers	Fetal Thymus	thymus
8	chr2:30555200-30558000	Weak transcription	Fetal Lung	lung
9	chr2:30555200-30558400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:30555200-30559600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:30555200-30559600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:30555200-30559800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:30555400-30559000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:30555400-30559800	Enhancers	Thymus	Thymus
15	chr2:30556000-30560400	Enhancers	Fetal Heart	heart
16	chr2:30556000-30561000	Enhancers	Spleen	Spleen
17	chr2:30556200-30559200	Enhancers	Fetal Muscle Leg	muscle
18	chr2:30556200-30560400	Enhancers	Left Ventricle	heart
19	chr2:30556400-30558000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:30556800-30559800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:30557000-30558200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:30557200-30558200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr2:30557200-30559400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:30557200-30559600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:30557400-30558000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:30557400-30558400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:30557400-30558400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:30557400-30558600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:30557400-30558800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:30557400-30559400	Enhancers	Adipose Nuclei	Adipose
31	chr2:30557400-30559400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:30557400-30559600	Enhancers	Right Atrium	heart
33	chr2:30557400-30559800	Enhancers	Dnd41	blood
34	chr2:30557400-30560400	Enhancers	Right Ventricle	heart
35	chr2:30557400-30561000	Enhancers	Primary hematopoietic stem cells	blood
36	chr2:30557600-30558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:30557600-30558000	Enhancers	Esophagus	oesophagus
38	chr2:30557600-30558600	Enhancers	Placenta	Placenta
39	chr2:30557600-30558600	Enhancers	Fetal Stomach	stomach
40	chr2:30557600-30558800	Enhancers	Lung	lung
41	chr2:30557600-30559200	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:30557600-30560200	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:30557800-30558000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr2:30557800-30558000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:30557800-30558000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:30557800-30558000	Enhancers	Pancreas	Pancrea
47	chr2:30557800-30558200	Enhancers	GM12878-XiMat	blood
48	chr2:30557800-30558400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:30557800-30558400	Enhancers	Psoas Muscle	Psoas
50	chr2:30557800-30558600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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