Variant report

Variant	rs12813530
Chromosome Location	chr12:40306743-40306744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12817755	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825170	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs17559609	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv558593	chr12:40279428-40317017	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv2757500	chr12:40299913-40331853	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv2759895	chr12:40299913-40331853	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv8966	chr12:40301433-40316300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3485964	chr12:40301558-40315926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv436152	chr12:40301604-40316186	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv3485941	chr12:40301606-40315901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2421863	chr12:40301611-40314753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv3485975	chr12:40301623-40315887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv3485953	chr12:40301638-40315841	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv3485986	chr12:40301638-40315841	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv19327	chr12:40301693-40315894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv3693121	chr12:40301720-40317017	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv558595	chr12:40302581-40312496	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
19	nsv515811	chr12:40302599-40312496	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv1038858	chr12:40303505-40314741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	esv2760268	chr12:40303505-40317643	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	nsv442269	chr12:40303506-40315026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	nsv514669	chr12:40303577-40313785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
24	nsv1050847	chr12:40303631-40314572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
25	nsv1051380	chr12:40303631-40314741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
26	esv2754680	chr12:40303633-40315033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
27	nsv1048984	chr12:40303909-40314741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40298400-40314200	Weak transcription	Fetal Kidney	kidney
2	chr12:40298800-40311200	Weak transcription	Pancreas	Pancrea
3	chr12:40299600-40309200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:40300200-40309000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:40303200-40312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:40304600-40307000	Enhancers	Liver	Liver
7	chr12:40305800-40307000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:40305800-40307200	Enhancers	Stomach Mucosa	stomach
9	chr12:40306200-40306800	Enhancers	NHEK	skin
10	chr12:40306200-40307000	Enhancers	HepG2	liver
11	chr12:40306400-40306800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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