Variant report

Variant	rs5030409
Chromosome Location	chr11:36533885-36533886
allele	C/T
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	MAX	chr11:36533562-36533897	HepG2	liver:	n/a	n/a
2	CTCF	chr11:36533879-36533904	Spleen_OC	spleen:	n/a	n/a
3	USF1	chr11:36533599-36533939	SK-N-SH	brain:	n/a	chr11:36533718-36533729
4	CEBPB	chr11:36533591-36533980	HepG2	liver:	n/a	n/a
5	RCOR1	chr11:36533690-36533969	HepG2	liver:	n/a	n/a
6	USF1	chr11:36533464-36533887	K562	blood:	n/a	chr11:36533718-36533729
7	ARID3A	chr11:36533553-36533997	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:36533584-36533953	HUVEC	blood vessel:	n/a	n/a
9	MXI1	chr11:36533578-36533943	HepG2	liver:	n/a	n/a
10	BHLHE40	chr11:36533582-36533930	HepG2	liver:	n/a	n/a
11	HNF4A	chr11:36533651-36533914	HepG2	liver:	n/a	n/a
12	USF2	chr11:36533552-36533903	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36530329..36533204-chr11:36533479..36537074,4	K562	blood:

Variant related genes	Relation type
RAG1	TF binding region
TRAF6	TF binding region
ENSG00000166349	Chromatin interaction
ENSG00000175104	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1046864	0.91[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs11033623	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs11600757	0.81[CEU][hapmap];1.00[MEX][hapmap]
rs11604180	0.91[ASN][1000 genomes]
rs12281565	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs12294785	0.91[CEU][hapmap]
rs2201845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303439	0.91[CEU][hapmap]
rs331457	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4755453	0.91[CEU][hapmap]
rs502243	0.81[EUR][1000 genomes]
rs5030403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030437	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs5030445	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs5030470	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5030472	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5030482	0.91[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs5030485	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs540386	0.91[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs552140	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7111402	1.00[MEX][hapmap];0.90[TSI][hapmap]
rs7117947	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7127484	0.83[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs7479562	0.91[ASN][1000 genomes]
rs890258	0.81[CEU][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr11:36532600-36534000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:36532600-36534200	Enhancers	HepG2	liver
3	chr11:36532600-36534200	Enhancers	HUVEC	blood vessel
4	chr11:36532600-36534600	Enhancers	Fetal Intestine Large	intestine
5	chr11:36532600-36534800	Enhancers	Fetal Intestine Small	intestine
6	chr11:36532600-36535400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:36532800-36534000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:36532800-36534000	Enhancers	NHEK	skin
9	chr11:36533000-36534000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:36533600-36534000	Enhancers	Duodenum Mucosa	Duodenum
11	chr11:36533600-36534000	Enhancers	Fetal Heart	heart
12	chr11:36533600-36534000	Enhancers	NH-A	brain
13	chr11:36533800-36534000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:36533800-36534000	Enhancers	Small Intestine	intestine
15	chr11:36533800-36534000	Enhancers	K562	blood

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