Variant report

Variant	rs72887408
Chromosome Location	chr2:46582656-46582657
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:46582580-46582735	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:46578006-46586107	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:46582287-46583854	A549	lung:	n/a	n/a

Variant related genes	Relation type
EPAS1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10189575	1.00[AMR][1000 genomes]
rs17035035	1.00[AMR][1000 genomes]
rs17035050	1.00[AMR][1000 genomes]
rs17035175	1.00[AMR][1000 genomes]
rs9973625	1.00[AMR][1000 genomes]

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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

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	chr2:46574400-46587400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:46574400-46590400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:46574600-46607200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:46574800-46613000	Weak transcription	HSMM	muscle
21	chr2:46575600-46583800	Weak transcription	HSMMtube	muscle
22	chr2:46575600-46584400	Weak transcription	Brain Substantia Nigra	brain
23	chr2:46576600-46583000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:46576600-46583400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:46576600-46585200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:46577000-46583600	Strong transcription	HepG2	liver
27	chr2:46578400-46583600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:46578400-46585600	Genic enhancers	Left Ventricle	heart
29	chr2:46578600-46590400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:46578800-46590800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:46579000-46585600	Strong transcription	Fetal Intestine Small	intestine
32	chr2:46579400-46588000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:46579600-46583200	Enhancers	Primary T cells from cord blood	blood
34	chr2:46579600-46583400	Weak transcription	NHDF-Ad	bronchial
35	chr2:46579600-46583600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:46579600-46585400	Enhancers	Fetal Thymus	thymus
37	chr2:46579600-46587800	Weak transcription	Fetal Lung	lung
38	chr2:46579800-46583000	Weak transcription	Aorta	Aorta
39	chr2:46580000-46582800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:46580000-46582800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:46580000-46583000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:46580000-46583000	Weak transcription	Esophagus	oesophagus
43	chr2:46580000-46583200	Weak transcription	HMEC	breast
44	chr2:46580000-46583600	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:46580000-46587800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:46580000-46588600	Strong transcription	NHLF	lung
47	chr2:46580000-46589000	Strong transcription	Liver	Liver
48	chr2:46580000-46594600	Weak transcription	Psoas Muscle	Psoas
49	chr2:46580200-46583000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:46580200-46583000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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