Variant report

Variant	rs6756667
Chromosome Location	chr2:46579409-46579410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:46578293-46579424	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:46578006-46586107	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:46579255-46579804	A549	lung:	n/a	n/a
4	POLR2A	chr2:46577359-46580124	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:46579079-46580136	K562	blood:	n/a	n/a
6	POLR2A	chr2:46578492-46581125	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:46578221-46580091	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46454038..46456672-chr2:46579053..46580662,2	MCF-7	breast:
2	chr2:46579353..46581763-chr2:46581815..46583940,2	MCF-7	breast:
3	chr2:46569601..46571271-chr2:46576825..46579452,2	K562	blood:
4	chr2:46365912..46368830-chr2:46579023..46581732,2	K562	blood:
5	chr2:46562025..46564585-chr2:46578103..46579665,2	MCF-7	breast:
6	chr2:46443517..46446483-chr2:46578540..46581475,2	K562	blood:

No data

Variant related genes	Relation type
EPAS1	TF binding region
ENSG00000116016	Chromatin interaction

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

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

rs_ID	r²[population]
rs10191091	0.85[CEU][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs11675232	0.85[CEU][hapmap]
rs11675441	0.81[CEU][hapmap]
rs11678465	0.81[CEU][hapmap]
rs11692911	0.85[CEU][hapmap]
rs11694193	0.81[CEU][hapmap]
rs1530631	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1530633	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1562452	0.89[CEU][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs1562453	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2881324	0.85[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes]
rs3768730	0.85[CEU][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs4953356	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4953358	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4953359	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6544887	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6544888	0.92[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6544889	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6544890	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707241	1.00[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6735812	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6740096	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6743991	1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7586141	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7594278	0.81[CEU][hapmap]
rs7598371	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6756667	EPAS1	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46567400-46584600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:46568000-46596600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:46570200-46584800	Weak transcription	Small Intestine	intestine
4	chr2:46572000-46584600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:46572400-46583200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:46572600-46590600	Strong transcription	NHEK	skin
7	chr2:46573200-46584200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:46573200-46613000	Strong transcription	Hela-S3	cervix
9	chr2:46573400-46583000	Weak transcription	Ovary	ovary
10	chr2:46573600-46583600	Weak transcription	Stomach Mucosa	stomach
11	chr2:46573800-46591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:46574000-46586200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:46574000-46589200	Strong transcription	Osteobl	bone
14	chr2:46574000-46589600	Strong transcription	A549	lung
15	chr2:46574200-46589600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:46574200-46590600	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr2:46574400-46579600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:46574400-46580000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:46574400-46587400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:46574400-46590400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:46574600-46607200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:46574800-46613000	Weak transcription	HSMM	muscle
23	chr2:46575400-46581800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:46575600-46579800	Weak transcription	Fetal Heart	heart
25	chr2:46575600-46583800	Weak transcription	HSMMtube	muscle
26	chr2:46575600-46584400	Weak transcription	Brain Substantia Nigra	brain
27	chr2:46576200-46579800	Strong transcription	Aorta	Aorta
28	chr2:46576600-46580200	Strong transcription	Pancreas	Pancrea
29	chr2:46576600-46581600	Weak transcription	Gastric	stomach
30	chr2:46576600-46583000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:46576600-46583400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:46576600-46585200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:46577000-46583600	Strong transcription	HepG2	liver
34	chr2:46577200-46579600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr2:46577400-46579600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:46577400-46579800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:46577600-46579600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr2:46577600-46579600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:46577600-46579800	Enhancers	Brain Anterior Caudate	brain
40	chr2:46577600-46580200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr2:46577600-46582000	Enhancers	Right Atrium	heart
42	chr2:46577800-46582000	Genic enhancers	Placenta	Placenta
43	chr2:46578200-46580000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:46578200-46580000	Genic enhancers	NHLF	lung
45	chr2:46578200-46580600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:46578400-46579600	Flanking Active TSS	HUVEC	blood vessel
47	chr2:46578400-46579800	Flanking Active TSS	Dnd41	blood
48	chr2:46578400-46580000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:46578400-46580000	Enhancers	Fetal Muscle Leg	muscle
50	chr2:46578400-46580200	Genic enhancers	Stomach Smooth Muscle	stomach

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