Variant report

Variant	rs6947532
Chromosome Location	chr7:122524498-122524499
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	chr7:122521246..122525169-chr7:122525278..122528321,3	MCF-7	breast:
2	chr7:122502243..122503856-chr7:122522076..122524661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081803	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1023535	0.82[CHB][hapmap]
rs10487750	0.82[CHB][hapmap]
rs12534868	0.82[CHB][hapmap]
rs12538235	0.82[CHB][hapmap]
rs12540674	0.86[CHB][hapmap]
rs12706436	0.82[YRI][hapmap]
rs12706438	0.82[CHB][hapmap]
rs12706439	0.90[CHB][hapmap]
rs12706440	0.82[CHB][hapmap]
rs12706442	0.82[CHB][hapmap]
rs12706443	0.90[CHB][hapmap]
rs12706444	0.82[CHB][hapmap]
rs12706445	0.82[CHB][hapmap]
rs12706451	0.82[CHB][hapmap]
rs12706453	0.82[CHB][hapmap]
rs12706454	0.82[CHB][hapmap]
rs13224552	0.82[CHB][hapmap]
rs13226818	0.82[CHB][hapmap]
rs13227070	0.82[CHB][hapmap]
rs13227529	0.90[CHB][hapmap]
rs13232111	0.82[CHB][hapmap];0.92[MKK][hapmap];0.82[YRI][hapmap]
rs13233385	0.82[CHB][hapmap]
rs13235728	0.90[CHB][hapmap]
rs13239193	0.91[YRI][hapmap]
rs13239280	0.82[CHB][hapmap]
rs13240237	0.82[CHB][hapmap]
rs13245411	0.82[CHB][hapmap];0.82[YRI][hapmap]
rs17144817	0.82[CHB][hapmap]
rs17144859	0.90[CHB][hapmap]
rs17144881	0.82[CHB][hapmap];0.82[YRI][hapmap]
rs17144922	0.81[CHB][hapmap]
rs17144937	0.82[CHB][hapmap]
rs17144940	0.82[CHB][hapmap]
rs17144942	0.82[CHB][hapmap]
rs17144945	0.82[CHB][hapmap]
rs17144947	0.82[CHB][hapmap]
rs17144949	0.82[CHB][hapmap]
rs17144969	0.82[CHB][hapmap]
rs17145052	0.82[CHB][hapmap];0.80[MKK][hapmap]
rs17145065	0.82[CHB][hapmap]
rs2097912	0.82[CHB][hapmap]
rs2190252	0.82[CHB][hapmap];0.82[MKK][hapmap]
rs2190253	0.82[CHB][hapmap];0.88[MKK][hapmap];0.82[YRI][hapmap]
rs2190256	0.82[CHB][hapmap]
rs2190259	0.82[CHB][hapmap]
rs2214844	0.82[CHB][hapmap]
rs4292628	0.82[CHB][hapmap]
rs4464881	0.82[CHB][hapmap]
rs4475406	0.82[CHB][hapmap];0.93[YRI][hapmap]
rs4607548	0.82[CHB][hapmap]
rs6944532	0.82[CHB][hapmap]
rs6963799	0.82[CHB][hapmap]
rs6966101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966490	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7782606	0.82[CHB][hapmap]
rs7787372	0.82[CHB][hapmap]
rs981321	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982272	0.81[CHB][hapmap]
rs990625	0.82[CHB][hapmap]

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	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv498124	chr7:122412493-122986259	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6947532	NDUFA5	cis	parietal	SCAN
rs6947532	ASB15	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122496200-122525600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:122520600-122525400	Weak transcription	Small Intestine	intestine
3	chr7:122520800-122525000	Weak transcription	Brain Anterior Caudate	brain
4	chr7:122521600-122524600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:122521600-122525200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:122521600-122525200	Weak transcription	NHLF	lung
7	chr7:122521800-122525400	Weak transcription	Gastric	stomach
8	chr7:122522800-122525000	Enhancers	Fetal Heart	heart
9	chr7:122522800-122527400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr7:122523000-122525200	Weak transcription	Left Ventricle	heart
11	chr7:122523000-122527400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:122523200-122524800	Enhancers	Fetal Lung	lung
13	chr7:122523200-122525200	Weak transcription	Aorta	Aorta
14	chr7:122523200-122525200	Weak transcription	Pancreas	Pancrea
15	chr7:122523200-122527600	Active TSS	Fetal Kidney	kidney
16	chr7:122523400-122524800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:122523400-122525200	Enhancers	Liver	Liver
18	chr7:122523600-122525400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:122523800-122524600	Weak transcription	Adipose Nuclei	Adipose
20	chr7:122523800-122524800	Weak transcription	Fetal Intestine Large	intestine
21	chr7:122523800-122525400	Weak transcription	Hela-S3	cervix
22	chr7:122524000-122525200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:122524000-122525200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:122524000-122526000	Active TSS	Right Atrium	heart
25	chr7:122524000-122527400	Active TSS	Placenta Amnion	Placenta Amnion
26	chr7:122524200-122525000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr7:122524200-122525200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:122524200-122525200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr7:122524200-122525200	Flanking Active TSS	HepG2	liver
30	chr7:122524400-122524600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:122524400-122524600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:122524400-122524600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:122524400-122524600	Enhancers	Brain Hippocampus Middle	brain
34	chr7:122524400-122524600	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:122524400-122524600	Enhancers	Stomach Mucosa	stomach
36	chr7:122524400-122524800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:122524400-122525800	Flanking Active TSS	HUVEC	blood vessel
38	chr7:122524400-122527600	Active TSS	Brain Angular Gyrus	brain
39	chr7:122524400-122527600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:122524400-122527600	Active TSS	Ovary	ovary

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