Variant report

Variant	rs12119648
Chromosome Location	chr1:223685434-223685435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10907386	0.83[ASN][1000 genomes]
rs11261296	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11586368	0.82[ASN][1000 genomes]
rs12041055	0.83[ASN][1000 genomes]
rs4233523	0.84[ASN][1000 genomes]
rs4325124	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4489550	0.82[ASN][1000 genomes]
rs4511103	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4512641	0.84[ASN][1000 genomes]
rs4636450	0.80[ASN][1000 genomes]
rs4661275	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4661276	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6604719	0.82[ASN][1000 genomes]
rs6683246	0.83[ASN][1000 genomes]
rs6692980	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[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	nsv520420	chr1:223682051-223693162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223683200-223686800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:223683400-223685800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:223683400-223686800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:223683800-223686400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:223684800-223689000	Weak transcription	Right Atrium	heart
6	chr1:223685000-223685800	Enhancers	HMEC	breast
7	chr1:223685000-223686200	Enhancers	Placenta	Placenta
8	chr1:223685200-223686000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:223685200-223689000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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

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