Variant report

Variant	rs2536191
Chromosome Location	chr7:120967638-120967639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr7:120967563-120972546	SK-N-SH	brain:	n/a	chr7:120968977-120968986 chr7:120968763-120968777

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120948641..120951022-chr7:120965716..120968633,2	K562	blood:

Variant related genes	Relation type
WNT16	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10250624	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10250907	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11762452	0.83[EUR][1000 genomes]
rs11768996	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11770098	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11771477	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706336	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706337	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706338	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706340	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706341	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706342	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13238085	0.84[EUR][1000 genomes]
rs17143305	0.84[EUR][1000 genomes]
rs1990447	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041490	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240982	0.94[ASN][1000 genomes]
rs2254591	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536153	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536155	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536156	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536157	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536158	0.85[EUR][1000 genomes]
rs2536159	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536160	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536163	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536164	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536165	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536166	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536167	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536168	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536170	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536173	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536174	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536175	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536176	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536178	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536179	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536184	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536188	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2536190	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2536192	0.84[EUR][1000 genomes]
rs2707461	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707462	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707463	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707465	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707467	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707468	0.84[EUR][1000 genomes]
rs2707470	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707471	0.84[EUR][1000 genomes]
rs2707472	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707473	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707474	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707475	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707476	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707477	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707478	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707479	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707480	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707481	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707482	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707491	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707492	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707496	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707503	0.97[ASN][1000 genomes]
rs2707504	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707505	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707507	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707516	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707522	0.84[EUR][1000 genomes]
rs2908006	1.00[ASN][1000 genomes]
rs2908010	1.00[ASN][1000 genomes]
rs2952564	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56293108	0.97[ASN][1000 genomes]
rs57275855	1.00[ASN][1000 genomes]
rs60736586	0.97[ASN][1000 genomes]
rs62476334	0.89[ASN][1000 genomes]
rs6943521	0.91[ASN][1000 genomes]
rs6954568	0.94[ASN][1000 genomes]
rs6956903	0.88[ASN][1000 genomes]
rs6972181	1.00[ASN][1000 genomes]
rs6972247	0.94[ASN][1000 genomes]
rs71571022	0.83[EUR][1000 genomes]
rs73438293	0.85[ASN][1000 genomes]
rs73440208	1.00[ASN][1000 genomes]
rs73440215	1.00[ASN][1000 genomes]
rs73440221	0.97[ASN][1000 genomes]
rs73720406	0.97[ASN][1000 genomes]
rs7780789	1.00[ASN][1000 genomes]
rs7782648	1.00[ASN][1000 genomes]
rs7785478	0.94[ASN][1000 genomes]
rs7792993	0.94[ASN][1000 genomes]
rs997782	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2536191	FAM3C	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120955000-120968600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:120964800-120968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links