Variant report

Variant	rs6697478
Chromosome Location	chr1:76769194-76769195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11162115	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12071138	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12124295	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12124554	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12125121	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12125168	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12126170	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12127832	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12131613	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1360878	0.81[CEU][hapmap]
rs1537783	0.89[CEU][hapmap]
rs17670910	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17671689	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2065793	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2210832	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2893415	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs35517533	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3862899	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3862900	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3916214	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4262595	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4290109	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4607942	0.81[CEU][hapmap]
rs55930988	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60579420	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672694	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6694998	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72675958	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72675960	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72675971	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437395	0.81[CEU][hapmap]
rs9437408	0.92[CEU][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76755800-76783000	Weak transcription	Fetal Lung	lung
2	chr1:76760400-76779200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76764000-76769200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:76764000-76769600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:76765000-76769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:76765200-76775400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:76768000-76769200	Enhancers	Brain Substantia Nigra	brain
8	chr1:76768400-76769200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:76768400-76769200	Enhancers	Psoas Muscle	Psoas
10	chr1:76768400-76769400	Enhancers	Fetal Heart	heart
11	chr1:76768600-76775400	Weak transcription	Fetal Thymus	thymus
12	chr1:76768800-76769400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:76768800-76769400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:76769000-76769200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:76769000-76769200	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:76769000-76769400	Enhancers	Brain Angular Gyrus	brain

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