Variant report

Variant	rs11071339
Chromosome Location	chr15:57955569-57955570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10162772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11629719	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs1346124	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1425948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1425949	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17240055	0.92[CEU][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs1834488	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251762	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433196	0.85[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs2554026	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs2733601	0.84[EUR][1000 genomes]
rs2733602	0.84[EUR][1000 genomes]
rs2733604	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270510	0.86[EUR][1000 genomes]
rs36082771	0.86[EUR][1000 genomes]
rs4578589	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774979	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs6493939	0.85[CEU][hapmap];0.87[MEX][hapmap]
rs7169211	0.92[CEU][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs7176042	0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs8034146	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9302201	0.92[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9806740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986868	0.87[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11071339	MYO5A	cis	parietal	SCAN
rs11071339	MYO1E	cis	cerebellum	SCAN
rs11071339	P4HA2	trans	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57919400-57959400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:57932200-57967400	Weak transcription	Aorta	Aorta
3	chr15:57933400-57982600	Weak transcription	Esophagus	oesophagus
4	chr15:57947400-57959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:57949200-57967400	Weak transcription	Right Ventricle	heart
6	chr15:57953200-57956000	Enhancers	Duodenum Mucosa	Duodenum
7	chr15:57953400-57955600	Enhancers	Fetal Lung	lung
8	chr15:57953800-57955600	Enhancers	Fetal Intestine Large	intestine
9	chr15:57954000-57956000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:57954000-57959200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:57954800-57955600	Genic enhancers	Adipose Nuclei	Adipose
12	chr15:57954800-57955600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr15:57954800-57955800	Enhancers	Small Intestine	intestine
14	chr15:57954800-57958800	Weak transcription	Fetal Kidney	kidney
15	chr15:57955000-57955800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:57955000-57955800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:57955000-57955800	Enhancers	Gastric	stomach
18	chr15:57955000-57959600	Genic enhancers	Left Ventricle	heart
19	chr15:57955400-57955600	Enhancers	Fetal Heart	heart
20	chr15:57955400-57955600	Genic enhancers	Fetal Intestine Small	intestine
21	chr15:57955400-57955600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr15:57955400-57957400	Weak transcription	Pancreas	Pancrea
23	chr15:57955400-57957800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:57955400-57958600	Weak transcription	Stomach Mucosa	stomach
25	chr15:57955400-57964600	Weak transcription	Right Atrium	heart

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