Variant report

Variant	rs10483785
Chromosome Location	chr14:66219517-66219518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1054218	0.82[CEU][hapmap]
rs1075566	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11158601	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11158611	0.89[EUR][1000 genomes]
rs11622271	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11622829	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624045	0.84[EUR][1000 genomes]
rs11624104	1.00[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11625362	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11625882	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11627067	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11627184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11627185	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11627578	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11627605	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11628765	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11628840	0.89[EUR][1000 genomes]
rs12050182	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12050231	0.89[EUR][1000 genomes]
rs12586842	0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12588838	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12879805	0.82[EUR][1000 genomes]
rs12882200	0.92[EUR][1000 genomes]
rs12883382	0.93[EUR][1000 genomes]
rs12886334	0.83[EUR][1000 genomes]
rs12887134	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs12887673	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12887957	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12888212	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889002	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12890902	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12894034	0.89[EUR][1000 genomes]
rs12894466	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12894902	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12896663	0.84[EUR][1000 genomes]
rs1535173	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1958561	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1998036	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2064694	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268961	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268962	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2300865	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2411351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2411355	0.82[EUR][1000 genomes]
rs2411357	0.81[EUR][1000 genomes]
rs2411404	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2411405	0.89[EUR][1000 genomes]
rs3783709	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4073415	0.81[CEU][hapmap]
rs4143898	0.89[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs4581615	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4902415	0.89[EUR][1000 genomes]
rs4902416	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573624	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573626	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67957534	0.90[EUR][1000 genomes]
rs7142018	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7142165	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7142219	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7142651	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7146742	0.85[CEU][hapmap]
rs7146829	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7149301	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7155541	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs7157449	0.88[EUR][1000 genomes]
rs7161123	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs730807	0.88[EUR][1000 genomes]
rs743084	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs743085	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs7493004	0.91[EUR][1000 genomes]
rs761831	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8010876	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8012278	1.00[ASW][hapmap];0.96[CEU][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs8018278	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8022764	0.85[AMR][1000 genomes]
rs927004	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10483785	HIF1A	cis	cerebellum	SCAN
rs10483785	FUT8	cis	cerebellum	SCAN
rs10483785	ZFP36L1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66215600-66239800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:66217400-66220200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr14:66217400-66221000	Enhancers	Fetal Intestine Small	intestine
4	chr14:66217800-66219600	Enhancers	HepG2	liver
5	chr14:66217800-66220400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr14:66218000-66221000	Enhancers	Fetal Intestine Large	intestine
7	chr14:66218400-66220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:66218800-66219600	Enhancers	Colonic Mucosa	Colon
9	chr14:66219200-66219800	Enhancers	Small Intestine	intestine
10	chr14:66219200-66220200	Enhancers	Duodenum Mucosa	Duodenum
11	chr14:66219200-66220600	Enhancers	Stomach Mucosa	stomach

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