Variant report

Variant	rs7749263
Chromosome Location	chr6:118566250-118566251
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11758375	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758402	0.82[ASN][1000 genomes]
rs11968293	0.94[CHB][hapmap];0.86[YRI][hapmap]
rs12212582	0.82[CHB][hapmap]
rs1572226	0.94[CHB][hapmap];0.88[YRI][hapmap]
rs17079898	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065021	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281861	0.83[CHB][hapmap]
rs281867	0.83[CHB][hapmap]
rs281868	0.96[CEU][hapmap];0.88[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs283040	0.81[CHB][hapmap]
rs283042	0.82[CHB][hapmap]
rs283044	0.83[CHB][hapmap]
rs283045	0.83[CHB][hapmap]
rs283046	0.82[CHB][hapmap]
rs283049	0.82[CHB][hapmap]
rs283050	0.83[CHB][hapmap]
rs283062	0.82[CHB][hapmap]
rs283077	0.93[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283080	0.82[ASN][1000 genomes]
rs283081	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs283082	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs283084	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs283085	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs283086	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs283087	0.84[ASN][1000 genomes]
rs283088	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs283091	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs372237	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs376875	0.82[CHB][hapmap]
rs3951016	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs397445	0.83[CHB][hapmap]
rs399844	0.82[CHB][hapmap]
rs419592	0.83[CHB][hapmap]
rs422833	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs4294041	0.83[ASN][1000 genomes]
rs431115	0.83[CHB][hapmap]
rs445566	0.82[CHB][hapmap]
rs447193	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs4946333	0.96[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4946336	0.83[CHB][hapmap]
rs55697000	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569009	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6912208	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6927800	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6940985	0.80[ASN][1000 genomes]
rs72965660	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs731695	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7452622	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs89107	0.96[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs927348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9401060	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9489327	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv428153	chr6:118430517-118586974	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1030089	chr6:118436482-118604516	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538427	chr6:118436482-118604516	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118564800-118576400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:118566000-118566800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:118566200-118566800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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