Variant report

Variant	rs2707471
Chromosome Location	chr7:120976677-120976678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10250624	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs10250907	0.85[EUR][1000 genomes]
rs11762263	0.93[EUR][1000 genomes]
rs11762452	0.99[EUR][1000 genomes]
rs11768996	0.85[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs11770098	0.85[EUR][1000 genomes]
rs11771477	0.85[EUR][1000 genomes]
rs12706336	0.85[EUR][1000 genomes]
rs12706337	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs12706338	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs12706339	0.86[EUR][1000 genomes]
rs12706340	0.84[EUR][1000 genomes]
rs12706341	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs12706342	0.83[EUR][1000 genomes]
rs12706346	1.00[CHD][hapmap]
rs13238085	1.00[EUR][1000 genomes]
rs17143305	1.00[EUR][1000 genomes]
rs1803389	0.91[EUR][1000 genomes]
rs1990446	0.88[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs1990447	0.85[EUR][1000 genomes]
rs2041490	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2254591	0.85[EUR][1000 genomes]
rs2536153	0.84[EUR][1000 genomes]
rs2536155	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2536156	0.85[EUR][1000 genomes]
rs2536157	0.83[EUR][1000 genomes]
rs2536158	0.85[EUR][1000 genomes]
rs2536159	0.85[EUR][1000 genomes]
rs2536160	0.85[EUR][1000 genomes]
rs2536163	0.82[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs2536164	0.85[EUR][1000 genomes]
rs2536165	0.85[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs2536166	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2536167	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2536168	0.85[EUR][1000 genomes]
rs2536170	0.85[EUR][1000 genomes]
rs2536173	0.85[EUR][1000 genomes]
rs2536174	0.85[EUR][1000 genomes]
rs2536175	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2536176	0.85[EUR][1000 genomes]
rs2536178	0.85[EUR][1000 genomes]
rs2536179	0.85[EUR][1000 genomes]
rs2536184	0.84[EUR][1000 genomes]
rs2536188	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2536190	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2536191	0.84[EUR][1000 genomes]
rs2536192	1.00[CHD][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs2707460	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2707461	0.88[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs2707462	0.84[EUR][1000 genomes]
rs2707463	0.85[EUR][1000 genomes]
rs2707465	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2707467	0.92[CEU][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707468	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2707469	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs2707470	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707472	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2707473	0.92[CEU][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707474	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707475	0.85[EUR][1000 genomes]
rs2707476	0.85[EUR][1000 genomes]
rs2707477	0.85[EUR][1000 genomes]
rs2707478	0.85[EUR][1000 genomes]
rs2707479	0.88[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs2707480	0.85[EUR][1000 genomes]
rs2707481	0.84[EUR][1000 genomes]
rs2707482	0.85[EUR][1000 genomes]
rs2707491	0.85[EUR][1000 genomes]
rs2707492	0.85[EUR][1000 genomes]
rs2707496	0.88[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs2707504	0.85[EUR][1000 genomes]
rs2707505	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2707507	0.88[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs2707516	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707522	0.86[EUR][1000 genomes]
rs2952564	0.84[EUR][1000 genomes]
rs4727922	0.92[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs71571022	0.99[EUR][1000 genomes]
rs7792993	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs7795596	1.00[CHB][hapmap]
rs997782	0.88[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	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
8	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
9	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2707471	HYAL4	cis	cerebellum	SCAN
rs2707471	FAM3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120970600-121016800	Weak transcription	Gastric	stomach
2	chr7:120970600-121025400	Weak transcription	Spleen	Spleen
3	chr7:120970800-120979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:120970800-120982600	Weak transcription	HSMM	muscle
5	chr7:120970800-121000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:120971000-120986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:120972000-120982000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:120972000-120986600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:120972000-120992400	Weak transcription	Esophagus	oesophagus
10	chr7:120973800-120998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:120974600-120981800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:120974800-120986400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:120975200-120978200	Enhancers	NHDF-Ad	bronchial
14	chr7:120975600-120992400	Weak transcription	HSMMtube	muscle
15	chr7:120975800-120979200	Weak transcription	Aorta	Aorta
16	chr7:120975800-120984000	Weak transcription	NHLF	lung
17	chr7:120976000-120978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:120976000-120982000	Weak transcription	Primary B cells from cord blood	blood
19	chr7:120976400-120986200	Weak transcription	NHEK	skin
20	chr7:120976400-120986800	Weak transcription	Fetal Brain Female	brain
21	chr7:120976600-120977800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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