Variant report

Variant	rs2593474
Chromosome Location	chr2:30856936-30856937
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30855476..30857973-chr2:30878238..30880495,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175399	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs10183928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865520	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096109	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11127278	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252625	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs1252631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252640	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252646	0.93[CEU][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs1252651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1252654	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1447186	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1447187	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470533	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470534	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470536	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1662946	0.89[AMR][1000 genomes]
rs1869423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869429	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266377	0.85[EUR][1000 genomes]
rs2593440	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593452	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593455	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593458	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593459	0.93[EUR][1000 genomes]
rs2593460	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593461	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593462	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593464	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593465	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593466	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602780	0.94[EUR][1000 genomes]
rs2602782	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602783	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602784	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602785	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602786	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602789	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602790	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602791	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602792	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602798	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602799	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602806	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602807	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609925	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609926	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609945	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609950	0.92[EUR][1000 genomes]
rs2609952	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609955	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609956	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609958	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862977	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs6731031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759011	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566983	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572318	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605994	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606200	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829563	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs829564	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs829574	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs829581	0.89[AMR][1000 genomes]
rs829582	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829616	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829617	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829618	0.93[CEU][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs829619	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829620	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829622	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs829629	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829631	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829634	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs829635	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829637	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829641	0.93[CEU][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs829642	0.86[CEU][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs829646	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs829653	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs829654	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs829655	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs829659	0.86[CEU][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs829660	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829661	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829669	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs829671	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829672	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829673	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs829675	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829677	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs829679	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs829680	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829682	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs829684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs844194	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs860487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs866680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs895662	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895665	0.96[AMR][1000 genomes];1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2593474	TMEM214	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:30811600-30863000	Weak transcription	Ovary	ovary
3	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
5	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
6	chr2:30837600-30863000	Weak transcription	HepG2	liver
7	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
9	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
11	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
12	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
14	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:30845600-30863000	Weak transcription	A549	lung
18	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine
21	chr2:30849000-30863800	Weak transcription	K562	blood
22	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:30850400-30869200	Weak transcription	Gastric	stomach
25	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:30851600-30863000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:30851800-30862800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:30851800-30863200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:30852000-30859600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:30852400-30863000	Weak transcription	Esophagus	oesophagus
33	chr2:30853200-30861200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:30853200-30862800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:30853200-30863200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:30853200-30863400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:30853200-30863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
40	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:30854200-30863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
43	chr2:30854400-30861200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:30854400-30862600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:30854400-30862800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:30854400-30862800	Weak transcription	Thymus	Thymus
47	chr2:30854400-30863000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:30854400-30863000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:30854400-30863000	Weak transcription	Fetal Thymus	thymus
50	chr2:30854400-30863200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links