Variant report

Variant	rs6470761
Chromosome Location	chr8:130708114-130708115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1010255	0.94[ASW][hapmap];0.84[CEU][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11986284	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11994186	0.92[ASN][1000 genomes]
rs28496233	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903057	0.94[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.90[ASN][1000 genomes]
rs4076445	0.84[ASN][1000 genomes]
rs4501553	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4733723	0.87[ASW][hapmap];0.84[CEU][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6993530	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011037	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7011406	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1018106	chr8:130697368-130708333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130701600-130708400	Weak transcription	Spleen	Spleen
2	chr8:130703800-130709600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130705000-130708800	Weak transcription	Osteobl	bone
4	chr8:130705000-130709400	Weak transcription	NHEK	skin
5	chr8:130705000-130709600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:130705200-130709600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:130705400-130709800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:130705600-130710000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:130705800-130709800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:130705800-130709800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:130705800-130713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:130707200-130708200	Enhancers	K562	blood
13	chr8:130707200-130713200	Weak transcription	Fetal Lung	lung
14	chr8:130707800-130708400	Weak transcription	A549	lung
15	chr8:130708000-130708200	ZNF genes & repeats	Esophagus	oesophagus

Quick Search:

Input of quick search could be:

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

what's new

Quick links