Variant report

Variant	rs637198
Chromosome Location	chr1:93716267-93716268
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs1000606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10430073	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10782958	0.96[EUR][1000 genomes]
rs1081523	0.85[EUR][1000 genomes]
rs1081524	0.86[EUR][1000 genomes]
rs1081525	0.88[EUR][1000 genomes]
rs1081526	0.87[EUR][1000 genomes]
rs10874765	0.96[EUR][1000 genomes]
rs10874767	0.96[EUR][1000 genomes]
rs10874771	0.96[EUR][1000 genomes]
rs10874774	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10874775	0.90[EUR][1000 genomes]
rs1088319	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11164882	0.82[EUR][1000 genomes]
rs11164888	0.96[EUR][1000 genomes]
rs11164889	0.96[EUR][1000 genomes]
rs11164890	0.96[EUR][1000 genomes]
rs11164891	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11164906	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11164911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11582703	0.96[EUR][1000 genomes]
rs11584466	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11799928	1.00[JPT][hapmap]
rs11800760	1.00[JPT][hapmap]
rs11801175	1.00[JPT][hapmap]
rs11801977	1.00[JPT][hapmap]
rs11802420	1.00[JPT][hapmap]
rs11807404	1.00[JPT][hapmap]
rs11808445	1.00[JPT][hapmap]
rs12070900	0.96[EUR][1000 genomes]
rs12071627	0.96[EUR][1000 genomes]
rs12080715	0.95[EUR][1000 genomes]
rs12085959	0.96[EUR][1000 genomes]
rs12088338	0.84[EUR][1000 genomes]
rs12090723	0.96[EUR][1000 genomes]
rs12731675	0.96[EUR][1000 genomes]
rs12731809	0.96[EUR][1000 genomes]
rs1323626	0.86[EUR][1000 genomes]
rs1323627	0.85[EUR][1000 genomes]
rs1323628	0.90[EUR][1000 genomes]
rs1414367	0.80[EUR][1000 genomes]
rs1535698	0.96[EUR][1000 genomes]
rs1535700	0.91[EUR][1000 genomes]
rs1570528	0.89[EUR][1000 genomes]
rs2031223	0.90[EUR][1000 genomes]
rs2031224	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2104280	0.94[EUR][1000 genomes]
rs2484485	0.80[EUR][1000 genomes]
rs2783498	0.83[EUR][1000 genomes]
rs2815408	0.80[EUR][1000 genomes]
rs2815409	0.80[EUR][1000 genomes]
rs2815410	0.82[EUR][1000 genomes]
rs2815411	0.82[EUR][1000 genomes]
rs2815412	0.80[EUR][1000 genomes]
rs2815413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2815414	0.86[EUR][1000 genomes]
rs3171	1.00[JPT][hapmap]
rs41528947	1.00[JPT][hapmap]
rs4573531	0.96[EUR][1000 genomes]
rs4847239	0.89[EUR][1000 genomes]
rs4847407	0.96[EUR][1000 genomes]
rs4847409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847411	0.90[EUR][1000 genomes]
rs485622	0.91[EUR][1000 genomes]
rs488646	0.95[EUR][1000 genomes]
rs504810	0.96[EUR][1000 genomes]
rs505531	0.85[EUR][1000 genomes]
rs506556	0.85[EUR][1000 genomes]
rs508942	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs512361	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs519723	0.94[EUR][1000 genomes]
rs522999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs523262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs556888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs558667	0.95[EUR][1000 genomes]
rs559397	0.96[EUR][1000 genomes]
rs56303209	0.96[EUR][1000 genomes]
rs566743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs573056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs581825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs587754	0.96[EUR][1000 genomes]
rs589241	0.90[AMR][1000 genomes]
rs605759	0.92[EUR][1000 genomes]
rs615416	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs626714	0.96[EUR][1000 genomes]
rs628714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629153	0.93[EUR][1000 genomes]
rs631966	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs633789	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs641390	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6541348	1.00[JPT][hapmap]
rs6541351	0.90[EUR][1000 genomes]
rs6541360	1.00[JPT][hapmap]
rs6541400	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs658178	0.96[EUR][1000 genomes]
rs658877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs661566	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs662546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6657587	0.96[EUR][1000 genomes]
rs6664886	0.91[EUR][1000 genomes]
rs6667540	1.00[JPT][hapmap]
rs6667701	0.96[EUR][1000 genomes]
rs6671070	1.00[JPT][hapmap]
rs667680	0.86[EUR][1000 genomes]
rs6679304	1.00[JPT][hapmap]
rs6687359	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs668944	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689867	1.00[JPT][hapmap]
rs6701250	0.88[EUR][1000 genomes]
rs6704067	1.00[JPT][hapmap]
rs670650	0.97[EUR][1000 genomes]
rs671559	0.84[EUR][1000 genomes]
rs693872	0.98[EUR][1000 genomes]
rs698926	0.89[EUR][1000 genomes]
rs7413775	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7518171	1.00[JPT][hapmap]
rs7519163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7525189	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7529230	1.00[JPT][hapmap]
rs7529639	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7532015	0.91[ASN][1000 genomes]
rs7545358	1.00[JPT][hapmap]
rs7546661	0.87[EUR][1000 genomes]
rs7551635	0.96[EUR][1000 genomes]
rs7554595	0.91[ASN][1000 genomes]
rs7555292	0.96[EUR][1000 genomes]
rs771448	0.85[EUR][1000 genomes]
rs771449	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs771450	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs771451	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs771452	0.87[EUR][1000 genomes]
rs771453	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs771456	0.89[EUR][1000 genomes]
rs771457	0.89[EUR][1000 genomes]
rs771459	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs771460	0.89[EUR][1000 genomes]
rs771463	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs771464	0.90[EUR][1000 genomes]
rs771466	0.87[EUR][1000 genomes]
rs771467	0.88[EUR][1000 genomes]
rs771468	0.88[EUR][1000 genomes]
rs771469	0.88[EUR][1000 genomes]
rs771471	0.88[EUR][1000 genomes]
rs771472	0.87[EUR][1000 genomes]
rs771474	0.87[EUR][1000 genomes]
rs771475	0.88[EUR][1000 genomes]
rs771477	0.88[EUR][1000 genomes]
rs771480	0.87[EUR][1000 genomes]
rs797660	0.86[EUR][1000 genomes]
rs797669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs809515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs810028	0.88[EUR][1000 genomes]
rs812789	0.86[EUR][1000 genomes]
rs8489	1.00[JPT][hapmap]
rs8561	1.00[JPT][hapmap]
rs9432680	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9432700	0.96[EUR][1000 genomes]
rs9432701	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[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	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs637198	RP4-717I23.3	cis	Stomach	GTEx
rs637198	RP4-717I23.3	cis	Nerve Tibial	GTEx
rs637198	RP4-717I23.3	cis	Artery Tibial	GTEx
rs637198	RP4-717I23.3	cis	Esophagus Muscularis	GTEx
rs637198	RP4-717I23.3	cis	Artery Aorta	GTEx
rs637198	RP4-717I23.3	cis	Skin Sun Exposed Lower leg	GTEx
rs637198	RP4-717I23.3	cis	Heart Left Ventricle	GTEx
rs637198	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx
rs637198	RP4-717I23.3	cis	Whole Blood	GTEx
rs637198	RP4-717I23.3	cis	Muscle Skeletal	GTEx
rs637198	RP4-717I23.3	cis	lung	GTEx
rs637198	RP4-717I23.3	cis	Thyroid	GTEx
rs637198	RP4-717I23.3	cis	Esophagus Mucosa	GTEx
rs637198	TMED5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
6	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:93704200-93729800	Weak transcription	Hela-S3	cervix
8	chr1:93706400-93727000	Weak transcription	K562	blood
9	chr1:93706600-93717200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:93707000-93727400	Weak transcription	Liver	Liver
11	chr1:93708800-93720200	Weak transcription	NHLF	lung
12	chr1:93709000-93717000	Weak transcription	Fetal Lung	lung
13	chr1:93709000-93717400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:93709000-93717600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:93709000-93717600	Weak transcription	Ovary	ovary
16	chr1:93709000-93718200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:93709000-93718200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:93709000-93718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:93709000-93718400	Weak transcription	Aorta	Aorta
20	chr1:93709000-93719000	Weak transcription	NHDF-Ad	bronchial
21	chr1:93709000-93719800	Weak transcription	HSMM	muscle
22	chr1:93709000-93720800	Weak transcription	Osteobl	bone
23	chr1:93709000-93724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:93709000-93726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:93709000-93727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:93709000-93728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:93709000-93728200	Weak transcription	HMEC	breast
28	chr1:93709200-93716400	Weak transcription	GM12878-XiMat	blood
29	chr1:93709200-93717600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:93709200-93718200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:93709200-93718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:93709200-93718400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:93709200-93718400	Weak transcription	Fetal Stomach	stomach
34	chr1:93709200-93727400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:93709400-93718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:93709400-93718400	Weak transcription	Fetal Thymus	thymus
37	chr1:93709400-93718400	Weak transcription	A549	lung
38	chr1:93709400-93727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:93709600-93717400	Weak transcription	Fetal Intestine Small	intestine
40	chr1:93709600-93718200	Weak transcription	Primary T cells from cord blood	blood
41	chr1:93709600-93718400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:93709600-93719000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:93709600-93720200	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:93709600-93725000	Weak transcription	HepG2	liver
45	chr1:93709600-93725600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:93709600-93727000	Weak transcription	NHEK	skin
47	chr1:93709800-93718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:93709800-93727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:93709800-93727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:93710000-93718200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links