Variant report

Variant	rs2008593
Chromosome Location	chr6:131145374-131145375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10499177	0.84[CHB][hapmap]
rs12528626	0.84[CHB][hapmap]
rs12660135	0.82[ASN][1000 genomes]
rs12661651	0.82[ASN][1000 genomes]
rs12663183	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs17059678	0.85[JPT][hapmap]
rs17059736	0.84[CHB][hapmap]
rs17059852	0.84[CHB][hapmap]
rs3777452	0.84[CHB][hapmap]
rs3798251	0.84[CHB][hapmap]
rs4513821	0.84[CHB][hapmap]
rs6927047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9492762	0.84[CHB][hapmap]

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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2008593	EPB41L2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131159200	Weak transcription	HSMM	muscle
2	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
3	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
4	chr6:131138400-131147400	Weak transcription	Fetal Intestine Large	intestine
5	chr6:131142600-131147600	Enhancers	HepG2	liver
6	chr6:131143600-131146400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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