Variant report

Variant	rs12619819
Chromosome Location	chr2:125422631-125422632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10171962	0.82[EUR][1000 genomes]
rs10496638	0.88[YRI][hapmap]
rs13022965	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs13033906	0.80[JPT][hapmap]
rs13385718	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs17392772	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs4848963	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs4848965	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs6710630	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs6739399	0.93[CEU][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs7596874	0.91[CEU][hapmap];0.82[JPT][hapmap]

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	nsv834359	chr2:125367872-125536022	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
2	nsv428727	chr2:125372897-125512949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12619819	MYO7B	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125420800-125424400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:125421600-125424400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:125421600-125425600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:125422200-125424400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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

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