Variant report

Variant	rs13236689
Chromosome Location	chr7:80236014-80236015
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10480808	0.87[CEU][hapmap];0.94[EUR][1000 genomes]
rs1049654	0.82[CEU][hapmap]
rs10499859	0.82[CEU][hapmap]
rs1054516	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1054517	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1194177	0.86[EUR][1000 genomes]
rs1194178	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1194179	0.86[EUR][1000 genomes]
rs1194182	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs12706912	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13438282	0.82[CEU][hapmap]
rs1358337	0.89[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs1413661	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1527479	0.82[CEU][hapmap]
rs1537477	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs17154155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1722502	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1722505	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1761661	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1761662	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1761665	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1761667	0.82[EUR][1000 genomes]
rs1953298	0.82[CEU][hapmap]
rs1953299	0.82[CEU][hapmap]
rs2366855	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs3211821	0.82[CEU][hapmap]
rs3211839	0.87[EUR][1000 genomes]
rs3211842	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3211849	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs3211870	0.89[CEU][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs3211885	0.92[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs3212160	0.88[CEU][hapmap]
rs4545029	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs4626520	0.91[ASN][1000 genomes]
rs4728183	0.80[EUR][1000 genomes]
rs4731643	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs6961024	0.82[EUR][1000 genomes]
rs6961069	0.96[EUR][1000 genomes]
rs7807607	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs819435	0.85[EUR][1000 genomes]
rs819436	0.85[EUR][1000 genomes]
rs819437	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv525704	chr7:80203718-80236014	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Mean platelet volume	22423221	GWAS catalog

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80227400-80238200	Weak transcription	Small Intestine	intestine
2	chr7:80230200-80237000	Weak transcription	Gastric	stomach
3	chr7:80231200-80236400	Active TSS	Right Atrium	heart
4	chr7:80231800-80236600	Active TSS	Adipose Nuclei	Adipose
5	chr7:80231800-80240200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:80233600-80236800	Weak transcription	Right Ventricle	heart
7	chr7:80234000-80236800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:80234600-80240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
10	chr7:80235000-80236200	Enhancers	Psoas Muscle	Psoas
11	chr7:80235400-80237600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:80235600-80239600	Enhancers	Fetal Intestine Large	intestine
13	chr7:80235800-80236200	Flanking Active TSS	Left Ventricle	heart
14	chr7:80235800-80236200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr7:80235800-80236400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr7:80235800-80237000	Enhancers	HepG2	liver
17	chr7:80235800-80237200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:80235800-80239400	Enhancers	Fetal Lung	lung
19	chr7:80236000-80236200	Enhancers	Pancreas	Pancrea
20	chr7:80236000-80236400	Enhancers	Fetal Heart	heart
21	chr7:80236000-80239800	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:80236000-80240400	Weak transcription	Fetal Stomach	stomach

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