Variant report

Variant	rs4727468
Chromosome Location	chr7:100507896-100507897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11771206	0.96[MKK][hapmap]
rs12535629	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12538287	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2075756	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs221811	0.90[MKK][hapmap]
rs3808356	0.86[ASN][1000 genomes]
rs3847067	0.83[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4727472	0.80[AMR][1000 genomes]
rs62482549	0.81[ASN][1000 genomes]
rs7457177	0.96[MKK][hapmap]
rs7784933	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7789085	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7800241	0.83[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription 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 miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100504200-100511200	Weak transcription	Gastric	stomach
2	chr7:100504200-100516400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100505000-100509600	Weak transcription	Pancreas	Pancrea
4	chr7:100507600-100509000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:100507600-100510000	Enhancers	Fetal Intestine Large	intestine
6	chr7:100507600-100510000	Enhancers	Fetal Intestine Small	intestine
7	chr7:100507600-100510400	Enhancers	Stomach Mucosa	stomach
8	chr7:100507800-100508000	Enhancers	K562	blood
9	chr7:100507800-100508200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:100507800-100508200	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:100507800-100508200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr7:100507800-100508600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:100507800-100510400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:100507800-100513800	Weak transcription	Colonic Mucosa	Colon

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

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