Variant report

Variant	rs6727836
Chromosome Location	chr2:30654319-30654320
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10495776	0.87[GIH][hapmap]
rs1252655	0.81[CHB][hapmap]
rs12621663	0.89[GIH][hapmap]
rs6712951	0.89[GIH][hapmap]
rs7602714	0.89[GIH][hapmap]
rs829626	0.89[GIH][hapmap]
rs864910	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs9789517	0.89[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6727836	GCKR	cis	parietal	SCAN
rs6727836	EMILIN1	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30645600-30656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:30645800-30656600	Weak transcription	Fetal Lung	lung
3	chr2:30646400-30656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
5	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
6	chr2:30648600-30655400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:30648600-30655400	Weak transcription	NHDF-Ad	bronchial
8	chr2:30648600-30655400	Weak transcription	Osteobl	bone
9	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:30651600-30656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:30651600-30656600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:30652000-30660800	Weak transcription	K562	blood
13	chr2:30652200-30655400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:30652400-30655400	Weak transcription	Fetal Heart	heart
15	chr2:30654200-30656600	Weak transcription	Right Atrium	heart

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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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