Variant report

Variant	rs56696877
Chromosome Location	chr7:100499947-100499948
allele	C/T
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]
rs11171	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17162518	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17228616	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1799805	0.95[EUR][1000 genomes]
rs2571602	0.89[EUR][1000 genomes]
rs55833792	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56966144	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57322794	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58194245	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73714210	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7801190	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7808329	0.95[EUR][1000 genomes]

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100498400-100500000	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr7:100498400-100500200	Enhancers	Liver	Liver
3	chr7:100498400-100501200	Enhancers	Fetal Intestine Large	intestine
4	chr7:100498400-100501200	Enhancers	Fetal Intestine Small	intestine
5	chr7:100498400-100501200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:100498600-100500000	Enhancers	HepG2	liver
7	chr7:100498600-100500000	Enhancers	K562	blood
8	chr7:100498800-100504000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100499000-100500200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:100499000-100500800	Weak transcription	Gastric	stomach
11	chr7:100499000-100504800	Weak transcription	Pancreas	Pancrea
12	chr7:100499600-100500000	Enhancers	GM12878-XiMat	blood
13	chr7:100499600-100500200	Enhancers	Placenta	Placenta
14	chr7:100499600-100500800	Enhancers	Stomach Mucosa	stomach
15	chr7:100499800-100500000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:100499800-100500000	Enhancers	A549	lung
17	chr7:100499800-100500600	Enhancers	Colonic Mucosa	Colon

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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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