Variant report

Variant	rs807810
Chromosome Location	chr3:47403892-47403893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47403119..47404717-chr3:47411186..47413636,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1038394	0.92[CEU][hapmap];0.81[JPT][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1076394	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10865946	0.92[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11130123	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11130124	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11130126	0.88[CEU][hapmap]
rs11130127	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130128	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs11130129	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs11130137	0.92[CEU][hapmap];0.94[YRI][hapmap]
rs11705957	0.92[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs11710013	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11710121	0.81[CEU][hapmap]
rs11710322	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11711265	0.92[CEU][hapmap];0.89[YRI][hapmap]
rs11711824	0.92[CEU][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11712445	0.92[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11716763	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs11719877	0.92[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11915074	0.89[CEU][hapmap]
rs11920853	0.89[CEU][hapmap]
rs11925823	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11927371	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12486969	0.88[EUR][1000 genomes]
rs12487736	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12495169	0.85[JPT][hapmap]
rs12497225	0.89[EUR][1000 genomes]
rs12632132	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12636851	0.92[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs13059519	0.92[CEU][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap]
rs13064843	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13072802	0.85[AFR][1000 genomes]
rs13075233	0.92[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13079098	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13094438	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1531875	0.92[CEU][hapmap];0.81[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1564760	0.84[YRI][hapmap]
rs1638676	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs17080872	0.81[JPT][hapmap]
rs17410853	0.81[CEU][hapmap]
rs17411375	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784882	0.92[CEU][hapmap]
rs1872164	0.92[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs2062278	0.89[EUR][1000 genomes]
rs2101247	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs2132173	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2159400	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276853	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2276854	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2291298	0.92[CEU][hapmap];0.95[YRI][hapmap]
rs295428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs295433	1.00[YRI][hapmap]
rs295441	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs295442	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs295449	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295458	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295461	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736177	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs3816779	0.92[CEU][hapmap];0.94[YRI][hapmap]
rs4241548	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4683326	0.96[CEU][hapmap]
rs4858805	0.88[EUR][1000 genomes]
rs4858811	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs4858824	0.92[CEU][hapmap]
rs4858848	0.87[EUR][1000 genomes]
rs4858868	0.92[CEU][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4858888	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858890	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858893	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs4858894	0.84[CEU][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes]
rs553989	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56032309	0.89[EUR][1000 genomes]
rs56351005	0.88[EUR][1000 genomes]
rs57346147	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60369822	0.83[EUR][1000 genomes]
rs62246474	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62248580	0.82[EUR][1000 genomes]
rs6768221	0.88[CEU][hapmap]
rs6780013	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs6787422	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6791842	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6792461	0.92[CEU][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs6792488	0.81[EUR][1000 genomes]
rs6800271	0.92[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7613282	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7641010	0.85[EUR][1000 genomes]
rs7649234	0.80[EUR][1000 genomes]
rs7651762	0.92[CEU][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs807931	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs807932	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs807936	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs811115	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs8180040	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs878659	0.92[CEU][hapmap];0.81[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs922957	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs9683033	0.92[CEU][hapmap];0.81[JPT][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9683177	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv3802	chr3:47396674-47441951	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs807810	RTP3	cis	lesional skin	skin_eQTL
rs807810	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs807810	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47401600-47407400	Weak transcription	Aorta	Aorta
2	chr3:47401600-47421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:47402800-47404000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:47403000-47404400	Enhancers	HepG2	liver
5	chr3:47403200-47404600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:47403600-47404600	Enhancers	Adipose Nuclei	Adipose
7	chr3:47403600-47405000	Enhancers	Primary B cells from cord blood	blood
8	chr3:47403800-47404000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:47403800-47404200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr3:47403800-47404400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:47403800-47404400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:47403800-47404600	Enhancers	Spleen	Spleen
13	chr3:47403800-47404800	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:47403800-47404800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:47403800-47404800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:47403800-47404800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:47403800-47404800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:47403800-47404800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:47403800-47404800	Enhancers	Lung	lung
20	chr3:47403800-47405000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr3:47403800-47405000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr3:47403800-47405000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:47403800-47405000	Enhancers	HUVEC	blood vessel
24	chr3:47403800-47405200	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links