Variant report

Variant	rs6990230
Chromosome Location	chr8:69941508-69941509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10093389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12549168	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs12675555	0.86[ASN][1000 genomes]
rs12675576	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16935336	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16935360	0.87[ASN][1000 genomes]
rs16935363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1974974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4737935	0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4737936	0.87[ASN][1000 genomes]
rs6999385	0.87[ASN][1000 genomes]
rs6999406	0.87[ASN][1000 genomes]
rs73683795	0.86[ASN][1000 genomes]
rs73683796	0.86[ASN][1000 genomes]
rs73683801	0.87[ASN][1000 genomes]
rs7825661	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv982081	chr8:69929430-69943096	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69930800-69942800	Weak transcription	Osteobl	bone
2	chr8:69938600-69942800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69939000-69943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:69941000-69943600	Weak transcription	NHEK	skin
5	chr8:69941000-69951600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:69941200-69942000	Weak transcription	HSMM	muscle
7	chr8:69941400-69943200	Enhancers	Brain Hippocampus Middle	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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