Variant report

Variant	rs283085
Chromosome Location	chr6:118603267-118603268
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118597232..118599796-chr6:118601917..118603550,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11758375	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11968293	0.82[CHB][hapmap]
rs12212582	0.94[CHB][hapmap]
rs1572226	0.81[CHB][hapmap]
rs1690662	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17079898	0.82[ASN][1000 genomes]
rs176014	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1874081	0.85[EUR][1000 genomes]
rs1923282	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs281861	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281864	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281867	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs281868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283040	0.94[CHB][hapmap]
rs283042	0.94[CHB][hapmap]
rs283044	0.94[CHB][hapmap]
rs283045	0.94[CHB][hapmap]
rs283046	0.94[CHB][hapmap]
rs283049	0.94[CHB][hapmap]
rs283050	0.94[CHB][hapmap]
rs283062	0.94[CHB][hapmap]
rs283077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs283080	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283082	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283083	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs283084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283086	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283087	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283088	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372237	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376875	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs387945	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3951016	0.90[ASN][1000 genomes]
rs397445	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs399844	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs414091	0.95[CEU][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs419592	0.94[CHB][hapmap]
rs422268	0.81[ASN][1000 genomes]
rs422833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427027	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs431115	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs445566	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs447193	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[ASN][1000 genomes]
rs4946336	0.94[CHB][hapmap]
rs55697000	0.83[ASN][1000 genomes]
rs6569009	0.81[ASN][1000 genomes]
rs6912208	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6927800	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs72965660	0.83[ASN][1000 genomes]
rs731695	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs7452622	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs7749263	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs89107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs927348	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs9401060	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9489327	0.88[CHB][hapmap];0.81[JPT][hapmap];0.84[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	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
3	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
4	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
5	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118598800-118604600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:118601600-118606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:118601800-118605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:118601800-118606400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:118602800-118603400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:118602800-118603600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:118602800-118606400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:118603000-118603800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:118603000-118605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:118603000-118606400	Enhancers	Fetal Heart	heart
11	chr6:118603200-118604800	Weak transcription	Brain Inferior Temporal Lobe	brain

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