Variant report

Variant	rs10189296
Chromosome Location	chr2:36961691-36961692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1015696	0.83[CHB][hapmap]
rs10165788	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10189264	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10201689	1.00[CEU][hapmap];0.92[TSI][hapmap];0.99[EUR][1000 genomes]
rs13397655	0.87[EUR][1000 genomes]
rs13398046	0.82[EUR][1000 genomes]
rs13423449	0.83[EUR][1000 genomes]
rs13423458	0.83[CHB][hapmap]
rs17019636	0.83[CHB][hapmap];0.80[EUR][1000 genomes]
rs17019641	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs66497336	0.85[EUR][1000 genomes]
rs72783168	0.89[ASN][1000 genomes]
rs7572548	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2762493	chr2:36958342-36965718	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv525132	chr2:36959486-36964751	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10189296	MYADML	cis	parietal	SCAN
rs10189296	KRT82	trans	parietal	SCAN
rs10189296	PRDM10	trans	parietal	SCAN
rs10189296	GALM	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36942600-36968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36958000-36962000	Enhancers	Hela-S3	cervix
3	chr2:36958000-36968200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:36958000-36970800	Weak transcription	Ovary	ovary
5	chr2:36958200-36963600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:36960200-36980400	Weak transcription	NHDF-Ad	bronchial
7	chr2:36960400-36961800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:36960400-36961800	Weak transcription	Placenta	Placenta
9	chr2:36960600-36964400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:36960800-36962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:36960800-36963400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:36961000-36962600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:36961000-36971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:36961200-36961800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:36961200-36963000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:36961600-36963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:36961600-36964000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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