Variant report

Variant	rs10494994
Chromosome Location	chr1:215362207-215362208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11120527	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs12143625	0.84[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap]
rs1538542	0.84[CHB][hapmap]
rs72735373	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10494994	INTS7	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215356000-215364800	Weak transcription	NHLF	lung
2	chr1:215356000-215368400	Weak transcription	Fetal Brain Female	brain
3	chr1:215356200-215364400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:215356200-215365200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:215360600-215363000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:215360800-215362800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:215361000-215362400	Enhancers	Osteobl	bone
8	chr1:215361000-215362600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:215361000-215363000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:215361400-215362400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:215361400-215362400	Enhancers	NHDF-Ad	bronchial
12	chr1:215361800-215362400	Enhancers	HSMM	muscle
13	chr1:215362200-215363600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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