Variant report

Variant	rs6470745
Chromosome Location	chr8:130641921-130641922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10092679	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10101342	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1077236	0.91[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16893247	0.91[CEU][hapmap];0.90[TSI][hapmap]
rs16904133	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16904135	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16904140	0.89[ASW][hapmap];0.92[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs28572791	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295627	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs4367505	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4498505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5022680	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs68055908	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6985032	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612230	chr8:130624121-130661901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130636800-130651600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:130638200-130647600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130638600-130642800	Enhancers	NHEK	skin
4	chr8:130638800-130642800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:130639600-130642600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:130639600-130642600	Enhancers	HMEC	breast
7	chr8:130639800-130642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:130640200-130651600	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:130641000-130642000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:130641000-130642600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:130641200-130642200	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:130641200-130642200	Enhancers	Brain Substantia Nigra	brain
13	chr8:130641200-130645400	Weak transcription	Fetal Brain Male	brain
14	chr8:130641400-130642200	Enhancers	Brain Hippocampus Middle	brain
15	chr8:130641600-130642600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:130641800-130644800	Weak transcription	Brain Anterior Caudate	brain
17	chr8:130641800-130645200	Weak transcription	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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