Variant report

Variant	rs62248667
Chromosome Location	chr3:46644132-46644133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11709309	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713702	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11715694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716682	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719804	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17221752	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62248664	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6792245	0.80[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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876738	chr3:46639048-46680063	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:46628800-46651000	Weak transcription	Right Atrium	heart
2	chr3:46634800-46650800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:46638600-46644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:46640600-46644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:46641800-46644600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:46641800-46644600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:46641800-46644600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:46641800-46644800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:46641800-46644800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:46641800-46645000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:46642000-46644800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:46642000-46644800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:46642000-46645000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:46642000-46645000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:46642400-46644800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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