Variant report

Variant	rs10247193
Chromosome Location	chr7:14423652-14423653
allele	C/G
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]
rs10282325	1.00[TSI][hapmap]
rs17168246	1.00[CEU][hapmap]
rs17168250	1.00[CEU][hapmap]
rs4721317	1.00[ASN][1000 genomes]
rs62444579	1.00[ASN][1000 genomes]
rs62444595	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62444597	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62444599	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62444600	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445620	1.00[ASN][1000 genomes]
rs73052171	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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv606281	chr7:14388381-14443963	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14418600-14428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:14421600-14424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:14421800-14424400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:14421800-14424400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:14421800-14425400	Weak transcription	HSMM	muscle
6	chr7:14422000-14424400	Weak transcription	NHEK	skin
7	chr7:14422000-14425600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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