Variant report

Variant	rs160054
Chromosome Location	chr10:91262503-91262504
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs303162	0.82[JPT][hapmap]
rs303175	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303176	0.86[AMR][1000 genomes]
rs303177	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs303178	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs303179	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs303181	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs303183	0.89[CEU][hapmap];0.84[CHB][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs303184	0.96[CEU][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs303188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303189	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303190	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs303191	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303192	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303195	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303196	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303197	0.92[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs303199	0.92[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs303202	0.92[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs303204	0.92[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs304416	0.91[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs304429	0.92[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs304430	0.92[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.84[LWK][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4933507	0.82[CEU][hapmap]
rs497191	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7903979	0.96[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs7924208	0.92[CEU][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs160054	HECTD2	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91251200-91274000	Weak transcription	Left Ventricle	heart
2	chr10:91259200-91263200	Weak transcription	Fetal Thymus	thymus
3	chr10:91259200-91268600	Weak transcription	Gastric	stomach
4	chr10:91261600-91262800	Enhancers	Fetal Heart	heart
5	chr10:91261600-91263000	Enhancers	Fetal Stomach	stomach
6	chr10:91261600-91264200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr10:91261800-91262600	Enhancers	Esophagus	oesophagus
8	chr10:91261800-91262600	Enhancers	Pancreas	Pancrea
9	chr10:91261800-91262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:91262000-91262600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:91262000-91263000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:91262000-91263600	Enhancers	NHDF-Ad	bronchial
13	chr10:91262000-91263800	Enhancers	HSMM	muscle
14	chr10:91262000-91264000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:91262200-91262600	Enhancers	Fetal Muscle Leg	muscle
16	chr10:91262200-91262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:91262200-91262800	Enhancers	Fetal Lung	lung
18	chr10:91262200-91262800	Enhancers	Hela-S3	cervix
19	chr10:91262200-91262800	Enhancers	HMEC	breast
20	chr10:91262200-91262800	Enhancers	HSMMtube	muscle
21	chr10:91262200-91263000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:91262200-91263000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:91262200-91263800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:91262200-91263800	Enhancers	NH-A	brain
25	chr10:91262200-91263800	Enhancers	NHEK	skin
26	chr10:91262200-91263800	Enhancers	NHLF	lung
27	chr10:91262200-91264200	Enhancers	Osteobl	bone
28	chr10:91262200-91265600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:91262400-91262800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:91262400-91263600	Enhancers	Right Atrium	heart

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