Variant report

Variant	rs10953314
Chromosome Location	chr7:100635679-100635680
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10229453	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10447810	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808115	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765099	0.81[ASN][1000 genomes]
rs11766024	0.86[ASN][1000 genomes]
rs11766048	0.89[ASN][1000 genomes]
rs11766125	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11771829	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11772812	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11772963	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532750	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538004	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540832	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13242391	0.80[ASN][1000 genomes]
rs34547547	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3891963	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4370452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4605982	0.87[ASN][1000 genomes]
rs55869514	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59276389	0.82[ASN][1000 genomes]
rs67047657	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68171838	0.81[ASN][1000 genomes]
rs6980143	0.84[AFR][1000 genomes]
rs7457468	0.87[ASN][1000 genomes]
rs7785171	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1836983	chr7:100630638-100669857	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv820330	chr7:100630947-100656356	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1850518	chr7:100631653-100648625	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1830855	chr7:100631853-100641054	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
15	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	esv3429797	chr7:100632832-100650330	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv12068	chr7:100632837-100649862	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv824240	chr7:100632837-100649862	ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3437094	chr7:100632932-100637130	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
20	esv3390782	chr7:100633432-100648730	Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv3395946	chr7:100633532-100648730	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv1823461	chr7:100633668-100648625	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv1849981	chr7:100633668-100686761	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv8187	chr7:100633741-100647992	ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
25	esv3417249	chr7:100633832-100648730	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv1844774	chr7:100633868-100648425	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	esv1818869	chr7:100633868-100649532	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv1832929	chr7:100633868-100649532	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	esv1825858	chr7:100634268-100648625	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	esv3410367	chr7:100634632-100648730	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	esv1810632	chr7:100634892-100641054	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	inside rSNPs	diseases
32	nsv607971	chr7:100635143-100648117	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100633200-100637800	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr7:100633400-100636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:100634800-100635800	ZNF genes & repeats	Spleen	Spleen
4	chr7:100635000-100635800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:100635000-100635800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
6	chr7:100635000-100635800	ZNF genes & repeats	Right Atrium	heart
7	chr7:100635400-100635800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
8	chr7:100635400-100660000	Weak transcription	Gastric	stomach
9	chr7:100635600-100635800	Enhancers	Fetal Muscle Trunk	muscle
10	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon

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