Variant report

Variant	rs11894913
Chromosome Location	chr2:173557598-173557599
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10166107	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166642	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10172894	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10178654	1.00[CHB][hapmap]
rs10180021	1.00[CHB][hapmap]
rs10188207	0.95[ASN][1000 genomes]
rs10188540	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10190099	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10198425	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10198426	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10198546	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10199472	1.00[CHB][hapmap]
rs10201129	1.00[CHB][hapmap]
rs10202550	1.00[CHB][hapmap]
rs10205076	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10205126	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10208151	1.00[CHB][hapmap]
rs10209860	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210546	1.00[CHB][hapmap]
rs10930569	0.85[AFR][1000 genomes]
rs11887454	1.00[CHB][hapmap]
rs11887904	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11888564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890159	1.00[CHB][hapmap]
rs11891071	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895461	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs11897396	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11898565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11899594	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11902043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12328591	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12328781	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12329241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693005	1.00[CHB][hapmap]
rs13007707	1.00[CHB][hapmap]
rs13384609	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13385403	1.00[CHB][hapmap]
rs13385676	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13387816	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13389072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392808	1.00[CHB][hapmap]
rs13394924	1.00[CHB][hapmap]
rs13400719	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13408965	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13411408	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13415156	1.00[CHB][hapmap]
rs13417334	1.00[CHB][hapmap]
rs13417913	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13420845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13422388	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13423020	0.81[AFR][1000 genomes]
rs13423248	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13425350	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13427701	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13427921	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13428122	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13432176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1451447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597647	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860696	1.00[CHB][hapmap]
rs16860697	1.00[CHB][hapmap]
rs17299956	1.00[CHB][hapmap]
rs17702263	1.00[CHB][hapmap]
rs17706710	1.00[CHB][hapmap]
rs1839767	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1869922	1.00[CHB][hapmap]
rs2167374	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28541707	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28670307	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28690076	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56308044	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs57104776	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59648896	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62168072	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62169318	0.95[ASN][1000 genomes]
rs62169319	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62169322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62169323	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62169324	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169325	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169326	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6712686	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717851	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723872	1.00[CHB][hapmap]
rs6724116	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6741433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752257	1.00[CHB][hapmap]
rs6757567	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7573946	0.91[EUR][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	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
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv274888	chr2:173550156-173559068	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173556600-173559000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr2:173556800-173559400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:173556800-173564600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:173557200-173557600	Enhancers	A549	lung
5	chr2:173557200-173557600	Enhancers	Hela-S3	cervix
6	chr2:173557200-173557800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:173557200-173557800	Enhancers	Right Ventricle	heart
8	chr2:173557200-173558000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:173557200-173558000	Enhancers	Primary T cells from cord blood	blood
10	chr2:173557200-173558000	Enhancers	NHEK	skin
11	chr2:173557200-173558200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:173557200-173558200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:173557200-173559000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:173557200-173559000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:173557200-173559000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:173557200-173559000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:173557200-173559000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:173557200-173559000	Enhancers	HMEC	breast
19	chr2:173557200-173559200	Enhancers	Fetal Heart	heart
20	chr2:173557200-173559400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:173557200-173559400	Enhancers	NHDF-Ad	bronchial
22	chr2:173557200-173559400	Enhancers	NHLF	lung
23	chr2:173557400-173557800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:173557400-173558000	Enhancers	Fetal Brain Female	brain
25	chr2:173557400-173558200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:173557400-173558400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:173557400-173558600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:173557400-173558800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:173557400-173558800	Enhancers	Esophagus	oesophagus
30	chr2:173557400-173558800	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:173557400-173558800	Enhancers	HUVEC	blood vessel
32	chr2:173557400-173558800	Enhancers	NH-A	brain
33	chr2:173557400-173559000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:173557400-173559000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:173557400-173559000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:173557400-173559000	Enhancers	Left Ventricle	heart
37	chr2:173557400-173559000	Enhancers	Right Atrium	heart
38	chr2:173557400-173559000	Enhancers	HSMM	muscle
39	chr2:173557400-173559000	Enhancers	Osteobl	bone
40	chr2:173557400-173559400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:173557400-173559600	Enhancers	Primary monocytes fromperipheralblood	blood

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