Variant report

Variant	rs293863
Chromosome Location	chr3:191020791-191020792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10937470	0.80[JPT][hapmap]
rs10937471	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10937472	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10937473	0.94[ASN][1000 genomes]
rs10937474	0.94[ASN][1000 genomes]
rs10937475	0.98[ASN][1000 genomes]
rs11711123	0.85[EUR][1000 genomes]
rs11720878	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11720880	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1195560	0.90[ASN][1000 genomes]
rs1195561	0.91[ASN][1000 genomes]
rs12486272	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12488393	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12490850	0.94[ASN][1000 genomes]
rs12495011	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12495014	0.94[ASN][1000 genomes]
rs12496729	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12629952	0.84[EUR][1000 genomes]
rs12631157	0.94[ASN][1000 genomes]
rs12638308	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12638950	0.93[ASN][1000 genomes]
rs13062195	0.84[EUR][1000 genomes]
rs13067368	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13078168	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1369280	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1398717	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1398718	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1435064	0.98[ASN][1000 genomes]
rs1435065	0.93[ASN][1000 genomes]
rs1435066	0.93[ASN][1000 genomes]
rs150503	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584934	0.84[EUR][1000 genomes]
rs1584935	0.94[ASN][1000 genomes]
rs1594950	0.94[ASN][1000 genomes]
rs184142	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2117544	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2117545	0.85[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2117546	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2117547	0.94[ASN][1000 genomes]
rs2572061	0.85[ASN][1000 genomes]
rs293862	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs293866	0.98[ASN][1000 genomes]
rs293867	0.97[ASN][1000 genomes]
rs293869	0.86[EUR][1000 genomes]
rs34670047	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34848591	0.90[EUR][1000 genomes]
rs55661359	0.89[ASN][1000 genomes]
rs66501888	0.84[EUR][1000 genomes]
rs6765280	0.94[ASN][1000 genomes]
rs6765783	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6769894	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6769898	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6769915	0.94[ASN][1000 genomes]
rs67775561	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6786046	0.94[ASN][1000 genomes]
rs6788319	0.80[JPT][hapmap]
rs6794234	0.94[ASN][1000 genomes]
rs6796119	0.98[ASN][1000 genomes]
rs6801672	0.93[ASN][1000 genomes]
rs6801766	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9835846	0.94[ASN][1000 genomes]
rs9854723	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv997716	chr3:190943706-191027499	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191010200-191021000	Enhancers	Primary B cells from peripheral blood	blood
2	chr3:191019000-191020800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:191019600-191020800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:191019600-191020800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:191019600-191020800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:191019600-191022400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:191019800-191020800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:191019800-191020800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:191019800-191020800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:191019800-191020800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:191019800-191020800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:191020000-191020800	Enhancers	Fetal Intestine Large	intestine
13	chr3:191020000-191021000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:191020400-191025200	Weak transcription	Primary B cells from cord blood	blood
15	chr3:191020600-191020800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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