Variant report

Variant	rs7802665
Chromosome Location	chr7:120664626-120664627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120662581..120666417-chr7:120714540..120719894,6	K562	blood:
2	chr7:120660852..120665277-chr7:120680137..120683898,4	K562	blood:

Variant related genes	Relation type
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10245811	0.94[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10257314	0.86[CHB][hapmap]
rs10277935	0.81[CHB][hapmap]
rs10953923	0.81[CHB][hapmap]
rs1118142	0.81[CHB][hapmap]
rs11976117	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12666371	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12671499	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12673175	0.91[AFR][1000 genomes]
rs12706305	0.81[CHB][hapmap]
rs12706306	0.81[CHB][hapmap]
rs16870531	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981711	0.81[CHB][hapmap]
rs2058501	0.81[CHB][hapmap]
rs41696	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41699	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41700	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41701	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41705	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4730984	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62470917	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6944789	0.81[CHB][hapmap]
rs6949989	0.81[CHB][hapmap]
rs6958635	0.81[CHB][hapmap]
rs7782014	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]
rs7782552	0.81[CHB][hapmap]
rs7802570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7802665	NDUFA5	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120656000-120668000	Weak transcription	Right Atrium	heart
2	chr7:120657800-120666400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:120658000-120665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:120660800-120665000	Enhancers	Liver	Liver
5	chr7:120660800-120665200	Enhancers	Colon Smooth Muscle	Colon
6	chr7:120661000-120668000	Weak transcription	HSMMtube	muscle
7	chr7:120661600-120669400	Genic enhancers	K562	blood
8	chr7:120662000-120665200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr7:120662000-120668000	Weak transcription	Fetal Stomach	stomach
10	chr7:120663200-120665000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:120663200-120665200	Enhancers	Fetal Lung	lung
12	chr7:120663200-120666600	Enhancers	NHLF	lung
13	chr7:120663400-120665000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:120663400-120665000	Enhancers	HepG2	liver
15	chr7:120663600-120665000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:120663800-120665600	Enhancers	Fetal Kidney	kidney
17	chr7:120663800-120666400	Weak transcription	Left Ventricle	heart
18	chr7:120664000-120665600	Weak transcription	Right Ventricle	heart
19	chr7:120664000-120665800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:120664000-120665800	Weak transcription	HSMM	muscle
21	chr7:120664000-120666200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:120664000-120668400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:120664200-120664800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:120664200-120664800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:120664200-120665000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:120664200-120665000	Enhancers	Adipose Nuclei	Adipose
27	chr7:120664200-120665200	Active TSS	Stomach Smooth Muscle	stomach
28	chr7:120664200-120666000	Weak transcription	Ovary	ovary
29	chr7:120664400-120665000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:120664400-120665200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:120664400-120668200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:120664400-120668400	Weak transcription	Aorta	Aorta
33	chr7:120664600-120664800	Enhancers	NHDF-Ad	bronchial
34	chr7:120664600-120665000	Enhancers	Hela-S3	cervix
35	chr7:120664600-120665000	Flanking Active TSS	Osteobl	bone
36	chr7:120664600-120665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:120664600-120666000	Weak transcription	Small Intestine	intestine
38	chr7:120664600-120666200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:120664600-120667200	Weak transcription	Fetal Heart	heart
40	chr7:120664600-120667600	Weak transcription	Psoas Muscle	Psoas
41	chr7:120664600-120668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:120664600-120668000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:120664600-120668000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:120664600-120672800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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