Variant report

Variant	rs7580589
Chromosome Location	chr2:173371838-173371839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10178654	0.82[CEU][hapmap]
rs10180021	0.90[CEU][hapmap]
rs10199472	0.82[CEU][hapmap]
rs10201129	0.90[CEU][hapmap]
rs10202550	0.90[CEU][hapmap]
rs10208151	0.82[CEU][hapmap]
rs10210546	0.82[CEU][hapmap]
rs10451559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886058	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11887454	0.82[CEU][hapmap]
rs11890159	0.82[CEU][hapmap]
rs11892462	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895820	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11904366	0.81[CEU][hapmap]
rs12693005	0.90[CEU][hapmap]
rs13007707	0.89[CEU][hapmap]
rs13012115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027362	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027432	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033614	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13385403	0.90[CEU][hapmap]
rs13392808	0.82[CEU][hapmap]
rs13394924	0.90[CEU][hapmap]
rs13398305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412041	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417334	0.90[CEU][hapmap]
rs16860696	0.82[CEU][hapmap]
rs16860697	0.82[CEU][hapmap]
rs17299956	0.82[CEU][hapmap]
rs17702263	0.90[CEU][hapmap]
rs17740327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869922	0.90[CEU][hapmap]
rs2701269	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701270	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463972	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480655	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884226	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34277286	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34401899	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532264	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34926868	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938988	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970908	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981026	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347526	0.92[EUR][1000 genomes]
rs59424951	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61486827	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167823	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167824	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433365	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723872	0.90[CEU][hapmap]
rs6735317	0.84[AMR][1000 genomes]
rs6739419	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746243	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752257	0.90[CEU][hapmap]
rs7596665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:173330600-173373200	Strong transcription	NHEK	skin
3	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
7	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:173331000-173373800	Strong transcription	HMEC	breast
10	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
12	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
13	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:173356800-173374600	Weak transcription	Fetal Kidney	kidney
16	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:173357000-173373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
21	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
22	chr2:173357600-173376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:173358000-173376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:173359200-173372400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:173361000-173375600	Weak transcription	Spleen	Spleen
26	chr2:173361200-173373600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:173361200-173375200	Weak transcription	GM12878-XiMat	blood
28	chr2:173361800-173373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:173362800-173372600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:173362800-173372800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:173363600-173372600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:173364600-173372000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:173365400-173372600	Weak transcription	Pancreas	Pancrea
34	chr2:173365600-173373000	Weak transcription	Fetal Intestine Small	intestine
35	chr2:173365800-173372200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:173366200-173374400	Strong transcription	HSMM	muscle
37	chr2:173367400-173376000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:173367600-173374400	Weak transcription	Colonic Mucosa	Colon
39	chr2:173368600-173374400	Strong transcription	HSMMtube	muscle
40	chr2:173369400-173374200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:173369600-173372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:173369600-173372000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:173369600-173372600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:173369600-173373000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:173369600-173373400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:173369600-173374200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:173369600-173374800	Weak transcription	HepG2	liver
48	chr2:173369600-173375000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:173369600-173375400	Weak transcription	Left Ventricle	heart
50	chr2:173369600-173375600	Weak transcription	Liver	Liver

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