Variant report

Variant	rs990308
Chromosome Location	chr6:144453138-144453139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1040464	0.86[EUR][1000 genomes]
rs12202421	0.85[EUR][1000 genomes]
rs12204782	0.88[ASN][1000 genomes]
rs12208207	0.88[ASN][1000 genomes]
rs34652974	0.88[ASN][1000 genomes]
rs4463275	0.95[ASN][1000 genomes]
rs6570607	0.86[EUR][1000 genomes]
rs6570609	0.85[EUR][1000 genomes]
rs6916177	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7747493	0.85[EUR][1000 genomes]
rs7769877	0.86[EUR][1000 genomes]
rs9496876	0.85[EUR][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	esv3449955	chr6:144452509-144454707	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2426838	chr6:144452778-144454341	Enhancers Weak transcription	TF binding region	1 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	chr6:144451200-144460400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:144451800-144453200	Enhancers	HUVEC	blood vessel
3	chr6:144452000-144453200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:144452000-144453200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:144452400-144453200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:144452400-144456200	Weak transcription	NHLF	lung
7	chr6:144453000-144454600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:144453000-144455200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:144453000-144455200	Weak transcription	NHDF-Ad	bronchial
10	chr6:144453000-144455200	Weak transcription	Osteobl	bone
11	chr6:144453000-144458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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