Variant report

Variant	rs6713914
Chromosome Location	chr2:59523041-59523042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11125778	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12053103	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1344458	0.87[ASN][1000 genomes]
rs1558596	0.82[EUR][1000 genomes]
rs17050031	0.83[EUR][1000 genomes]
rs36164224	0.82[EUR][1000 genomes]
rs62148582	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6727119	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586283	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7588177	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	nsv834170	chr2:59436676-59604794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv582099	chr2:59494725-59563744	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6713914	EHBP1	cis	cerebellum	SCAN
rs6713914	BCL11A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59522000-59523600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:59522000-59524200	Enhancers	Fetal Heart	heart
3	chr2:59522200-59523200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:59522200-59524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:59522400-59523800	Enhancers	Fetal Lung	lung
6	chr2:59522400-59525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:59522600-59523600	Enhancers	Fetal Intestine Small	intestine
8	chr2:59522800-59523600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:59523000-59523800	Enhancers	Rectal Smooth Muscle	rectum

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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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