Variant report

Variant	rs7593972
Chromosome Location	chr2:208843829-208843830
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	chr2:208843739..208846333-chr2:208861565..208863915,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10192065	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10196408	0.92[ASN][1000 genomes]
rs10198217	0.91[ASN][1000 genomes]
rs10221788	0.86[JPT][hapmap]
rs1037416	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10497891	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs10497892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10932217	0.81[JPT][hapmap]
rs10932218	0.93[ASN][1000 genomes]
rs10932228	0.80[CEU][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs11674933	0.88[AMR][1000 genomes]
rs11676872	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11679492	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11687058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11687255	0.85[AMR][1000 genomes]
rs11692908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12694097	0.96[ASN][1000 genomes]
rs13006024	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs13011597	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13018735	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13025100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13402422	0.94[JPT][hapmap]
rs1466186	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17640827	0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1812697	0.90[ASN][1000 genomes]
rs2044971	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2100349	0.98[ASN][1000 genomes]
rs2100351	0.98[ASN][1000 genomes]
rs2123294	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2123295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2362782	0.91[ASN][1000 genomes]
rs2362783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs34329895	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35086013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35687108	0.91[ASN][1000 genomes]
rs35726860	0.98[ASN][1000 genomes]
rs35735821	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795911	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3795912	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4021953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4441448	0.98[ASN][1000 genomes]
rs4507086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4673377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs55883450	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61116354	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62190860	0.86[AMR][1000 genomes]
rs62190895	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6435401	0.86[JPT][hapmap]
rs6711259	0.86[JPT][hapmap]
rs6712527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6718363	0.95[ASN][1000 genomes]
rs6730216	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6731479	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733857	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6741366	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7355275	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7424035	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7562306	0.99[ASN][1000 genomes]
rs7570588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7595734	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7595823	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7609209	0.90[ASN][1000 genomes]
rs896636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs930746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9679132	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking 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 miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208827400-208857400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:208834000-208864000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:208834800-208865000	Weak transcription	HSMMtube	muscle
4	chr2:208835600-208846600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:208835800-208855400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:208835800-208860800	Weak transcription	Small Intestine	intestine
7	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
8	chr2:208838000-208844200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:208838000-208848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:208839000-208848000	Weak transcription	GM12878-XiMat	blood
11	chr2:208839200-208844800	Weak transcription	Fetal Heart	heart
12	chr2:208839400-208848000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:208840000-208863800	Weak transcription	Placenta	Placenta
14	chr2:208841600-208864800	Weak transcription	HepG2	liver
15	chr2:208841600-208865200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:208841800-208864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:208842000-208844000	Weak transcription	Colonic Mucosa	Colon
18	chr2:208842000-208844200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:208842000-208845200	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:208842000-208846200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:208842000-208848600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:208842000-208852000	Weak transcription	Psoas Muscle	Psoas
23	chr2:208842000-208862000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:208842000-208864200	Weak transcription	Fetal Thymus	thymus
25	chr2:208842200-208844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:208842200-208844200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:208842200-208844400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:208842200-208844400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:208842200-208844600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:208842200-208844800	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:208842200-208845000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:208842200-208845800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:208842200-208847200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:208842200-208847200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:208842200-208848000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:208842200-208848000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:208842200-208848400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:208842200-208849000	Weak transcription	Pancreas	Pancrea
39	chr2:208842200-208850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:208842200-208851800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:208842200-208852000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:208842200-208853400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:208842200-208854400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:208842200-208854600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:208842200-208856200	Weak transcription	Brain Angular Gyrus	brain
46	chr2:208842200-208856600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:208842200-208857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:208842200-208861800	Weak transcription	Adipose Nuclei	Adipose
49	chr2:208842200-208861800	Weak transcription	Liver	Liver
50	chr2:208842200-208862000	Weak transcription	Lung	lung

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