Variant report

Variant	rs11978697
Chromosome Location	chr7:100511253-100511254
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11973000	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13232524	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13241786	0.86[EUR][1000 genomes]
rs1799806	0.86[EUR][1000 genomes]
rs2405973	0.82[EUR][1000 genomes]
rs2405974	0.81[EUR][1000 genomes]
rs2405975	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28852509	0.92[EUR][1000 genomes]
rs2894713	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34005963	0.81[EUR][1000 genomes]
rs3757869	0.81[EUR][1000 genomes]
rs3757871	0.80[EUR][1000 genomes]
rs3847064	0.81[EUR][1000 genomes]
rs3847068	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3931823	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4729619	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3410169	chr7:100509966-100512114	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3371368	chr7:100510316-100511714	Enhancers Weak transcription Flanking Active TSS Active TSS	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	chr7:100504200-100516400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:100507800-100513800	Weak transcription	Colonic Mucosa	Colon
3	chr7:100508400-100514000	Weak transcription	K562	blood
4	chr7:100510400-100511400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:100510400-100511600	Weak transcription	Pancreas	Pancrea
6	chr7:100510400-100514000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:100510400-100514200	Weak transcription	Placenta	Placenta
8	chr7:100510600-100512400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:100510600-100512600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:100511000-100512200	Enhancers	HepG2	liver
11	chr7:100511000-100513000	Enhancers	Liver	Liver
12	chr7:100511000-100513000	Enhancers	Fetal Intestine Large	intestine
13	chr7:100511000-100513000	Enhancers	Stomach Mucosa	stomach
14	chr7:100511200-100512600	Enhancers	Fetal Intestine Small	intestine
15	chr7:100511200-100512800	Enhancers	Gastric	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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