Variant report

Variant	rs72615167
Chromosome Location	chr7:100513917-100513918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12668594	1.00[EUR][1000 genomes]
rs3847065	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4729622	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72615163	1.00[EUR][1000 genomes]
rs72615164	0.82[AMR][1000 genomes]
rs72615165	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72615166	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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	chr7:100504200-100516400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:100508400-100514000	Weak transcription	K562	blood
3	chr7:100510400-100514000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:100510400-100514200	Weak transcription	Placenta	Placenta
5	chr7:100512400-100514000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:100512600-100514000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr7:100512600-100515800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:100512800-100514000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:100513000-100514000	Weak transcription	Liver	Liver
10	chr7:100513000-100514000	Weak transcription	Stomach Mucosa	stomach
11	chr7:100513000-100514800	Weak transcription	Fetal Intestine Large	intestine
12	chr7:100513800-100514000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr7:100513800-100514200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:100513800-100514400	Active TSS	Colonic Mucosa	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
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