Variant report

Variant	rs7782014
Chromosome Location	chr7:120667666-120667667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10245811	0.94[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10257314	0.86[CHB][hapmap]
rs10277935	0.82[CHB][hapmap]
rs10953923	0.82[CHB][hapmap]
rs1118142	0.82[CHB][hapmap]
rs11976117	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12666371	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12671499	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12706305	0.82[CHB][hapmap]
rs12706306	0.82[CHB][hapmap]
rs16870531	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981711	0.82[CHB][hapmap]
rs2058501	0.82[CHB][hapmap]
rs41696	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41699	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41700	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41701	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41705	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4730984	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62470917	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6944789	0.82[CHB][hapmap]
rs6949989	0.82[CHB][hapmap]
rs6958635	0.82[CHB][hapmap]
rs7782552	0.82[CHB][hapmap]
rs7802570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802665	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7782014	NDUFA5	cis	cerebellum	SCAN
rs7782014	FLJ21986	cis	multi-tissue	Pritchard

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120656000-120668000	Weak transcription	Right Atrium	heart
2	chr7:120661000-120668000	Weak transcription	HSMMtube	muscle
3	chr7:120661600-120669400	Genic enhancers	K562	blood
4	chr7:120662000-120668000	Weak transcription	Fetal Stomach	stomach
5	chr7:120664000-120668400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:120664400-120668200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:120664400-120668400	Weak transcription	Aorta	Aorta
8	chr7:120664600-120668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:120664600-120668000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:120664600-120668000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:120664600-120672800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:120665000-120668000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:120665000-120668000	Weak transcription	Adipose Nuclei	Adipose
14	chr7:120665000-120668000	Weak transcription	Osteobl	bone
15	chr7:120665200-120668000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:120665200-120668400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:120665200-120672800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:120665800-120667800	Strong transcription	HSMM	muscle
19	chr7:120666200-120668000	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:120666200-120668000	Weak transcription	Fetal Kidney	kidney
21	chr7:120666400-120668200	Weak transcription	Right Ventricle	heart
22	chr7:120666400-120668600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:120666600-120668000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:120666600-120668000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:120666600-120668000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:120666600-120668000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:120666600-120668600	Weak transcription	NHDF-Ad	bronchial
28	chr7:120666600-120672800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:120666600-120673000	Weak transcription	Small Intestine	intestine
30	chr7:120666600-120683600	Weak transcription	Liver	Liver
31	chr7:120666800-120668800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:120667000-120668000	Weak transcription	Ovary	ovary
33	chr7:120667200-120668000	Weak transcription	HepG2	liver
34	chr7:120667200-120668200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:120667200-120668400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:120667200-120668400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:120667200-120670400	Enhancers	Fetal Heart	heart
38	chr7:120667200-120672600	Weak transcription	Left Ventricle	heart
39	chr7:120667400-120668200	Enhancers	Fetal Lung	lung
40	chr7:120667600-120668600	Enhancers	Psoas Muscle	Psoas
41	chr7:120667600-120668800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:120667600-120669000	Enhancers	NHLF	lung

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