Variant report

Variant	rs6724065
Chromosome Location	chr2:46578399-46578400
allele	C/G
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	chr2:46578293-46579424	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:46578286-46578640	A549	lung:	n/a	n/a
3	POLR2A	chr2:46578006-46586107	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:46577359-46580124	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:46578349-46579223	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:46578221-46580091	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46569601..46571271-chr2:46576825..46579452,2	K562	blood:
2	chr2:46562025..46564585-chr2:46578103..46579665,2	MCF-7	breast:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10191091	0.88[EUR][1000 genomes]
rs1562452	0.89[EUR][1000 genomes]
rs2881324	0.80[EUR][1000 genomes]
rs6544887	0.89[EUR][1000 genomes]
rs6544888	0.89[EUR][1000 genomes]
rs6544889	0.89[EUR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46563800-46579000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:46564600-46578800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:46566600-46579200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:46567400-46584600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:46568000-46596600	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:46570200-46584800	Weak transcription	Small Intestine	intestine
7	chr2:46572000-46584600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:46572400-46583200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:46572600-46578800	Enhancers	Fetal Thymus	thymus
10	chr2:46572600-46590600	Strong transcription	NHEK	skin
11	chr2:46573200-46584200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:46573200-46613000	Strong transcription	Hela-S3	cervix
13	chr2:46573400-46583000	Weak transcription	Ovary	ovary
14	chr2:46573600-46583600	Weak transcription	Stomach Mucosa	stomach
15	chr2:46573800-46591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:46574000-46578800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:46574000-46578800	Genic enhancers	Adipose Nuclei	Adipose
18	chr2:46574000-46586200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:46574000-46589200	Strong transcription	Osteobl	bone
20	chr2:46574000-46589600	Strong transcription	A549	lung
21	chr2:46574200-46578600	Enhancers	Thymus	Thymus
22	chr2:46574200-46589600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:46574200-46590600	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr2:46574400-46578600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:46574400-46579600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:46574400-46580000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:46574400-46587400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:46574400-46590400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:46574600-46578600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:46574600-46578800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:46574600-46607200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:46574800-46578400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:46574800-46578600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:46574800-46613000	Weak transcription	HSMM	muscle
35	chr2:46575000-46578600	Weak transcription	GM12878-XiMat	blood
36	chr2:46575400-46578400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:46575400-46578800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:46575400-46581800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:46575600-46579800	Weak transcription	Fetal Heart	heart
40	chr2:46575600-46583800	Weak transcription	HSMMtube	muscle
41	chr2:46575600-46584400	Weak transcription	Brain Substantia Nigra	brain
42	chr2:46576000-46579400	Weak transcription	HMEC	breast
43	chr2:46576200-46578600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:46576200-46578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:46576200-46578800	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:46576200-46579800	Strong transcription	Aorta	Aorta
47	chr2:46576400-46578400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:46576400-46578800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:46576400-46579200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:46576600-46578600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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