Variant report

Variant	rs6750222
Chromosome Location	chr2:47350862-47350863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13013543	1.00[CHD][hapmap]
rs13013607	1.00[CHD][hapmap]
rs13027765	0.94[EUR][1000 genomes]
rs13036098	0.94[EUR][1000 genomes]
rs1961278	0.94[EUR][1000 genomes]
rs34243941	0.94[EUR][1000 genomes]
rs35078542	0.94[EUR][1000 genomes]
rs35113955	0.94[EUR][1000 genomes]
rs35206348	0.94[EUR][1000 genomes]
rs35730474	0.94[EUR][1000 genomes]
rs35782848	0.94[EUR][1000 genomes]
rs6744319	0.94[EUR][1000 genomes]
rs6757363	1.00[CHD][hapmap]
rs71423944	0.94[EUR][1000 genomes]
rs71423945	0.94[EUR][1000 genomes]
rs71423947	0.94[EUR][1000 genomes]
rs74179081	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	esv2762549	chr2:47350728-47355276	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47346000-47351600	Weak transcription	Stomach Mucosa	stomach
2	chr2:47346600-47366200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:47347000-47368800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:47348400-47354600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:47348400-47355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:47348400-47356200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:47348600-47351400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:47348600-47355200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:47348600-47355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:47348600-47371000	Weak transcription	Thymus	Thymus
11	chr2:47348800-47354600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:47349000-47355000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:47349000-47363800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:47349200-47351600	Weak transcription	HepG2	liver
15	chr2:47349200-47366200	Weak transcription	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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