Variant report

Variant	rs62136364
Chromosome Location	chr2:64078127-64078128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:64077635-64080768	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr2:64077994-64078712	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:64077717..64079562-chr2:64090764..64092837,2	K562	blood:
2	chr2:64066479..64069596-chr2:64075482..64078663,3	MCF-7	breast:
3	chr2:64076905..64078833-chr2:64080637..64082778,2	K562	blood:
4	chr2:63917240..63919967-chr2:64076966..64079284,2	MCF-7	breast:
5	chr2:64065293..64070615-chr2:64075268..64080842,9	MCF-7	breast:

No data

Variant related genes	Relation type
UGP2	TF binding region
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs13431437	1.00[ASN][1000 genomes]
rs17028099	1.00[ASN][1000 genomes]
rs17554748	1.00[ASN][1000 genomes]
rs28838707	1.00[ASN][1000 genomes]
rs3924029	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748575	1.00[ASN][1000 genomes]
rs56342040	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57120200	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57329063	1.00[ASN][1000 genomes]
rs57413391	1.00[ASN][1000 genomes]
rs57844293	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57877849	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58208651	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58422338	1.00[ASN][1000 genomes]
rs58472560	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58495096	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59540641	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136361	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136362	1.00[EUR][1000 genomes]
rs62136366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136369	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136391	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136393	0.86[EUR][1000 genomes]
rs62136397	0.86[EUR][1000 genomes]
rs62136400	0.86[EUR][1000 genomes]
rs62136402	0.86[EUR][1000 genomes]
rs62137457	0.89[AMR][1000 genomes]
rs62138760	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138819	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138820	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138822	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138823	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138824	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745518	1.00[ASN][1000 genomes]
rs6751397	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73937260	1.00[ASN][1000 genomes]
rs73937264	1.00[ASN][1000 genomes]
rs73937268	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582457	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601187	1.00[ASN][1000 genomes]
rs7606341	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2470969	chr2:64077035-64078477	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64070000-64082800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:64070200-64084600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:64070200-64103000	Weak transcription	Gastric	stomach
4	chr2:64070600-64082800	Weak transcription	Fetal Stomach	stomach
5	chr2:64070600-64083800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:64070800-64082600	Weak transcription	HUVEC	blood vessel
7	chr2:64071200-64080600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:64071800-64080200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:64071800-64080600	Weak transcription	Pancreas	Pancrea
10	chr2:64072000-64080600	Weak transcription	Lung	lung
11	chr2:64072000-64081200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:64072000-64082800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:64072000-64082800	Weak transcription	Placenta	Placenta
14	chr2:64072000-64084200	Weak transcription	Esophagus	oesophagus
15	chr2:64072200-64079600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:64072600-64084600	Weak transcription	Hela-S3	cervix
17	chr2:64073000-64081800	Weak transcription	Colonic Mucosa	Colon
18	chr2:64073000-64083200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:64073200-64078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:64073400-64078600	Weak transcription	Primary B cells from cord blood	blood
21	chr2:64073400-64079000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:64073400-64080600	Weak transcription	Spleen	Spleen
23	chr2:64074000-64079200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:64074000-64079600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:64074600-64082000	Enhancers	Fetal Heart	heart
26	chr2:64075200-64083000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:64075600-64078400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:64075800-64078200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:64075800-64078600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:64075800-64078800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:64075800-64080600	Weak transcription	Left Ventricle	heart
32	chr2:64075800-64081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:64075800-64081800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:64076000-64078800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr2:64076000-64081200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:64076000-64083000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:64076200-64078200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:64076200-64079400	Enhancers	HSMMtube	muscle
39	chr2:64076200-64080600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:64076200-64081800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:64076200-64082600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:64076200-64083000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:64076400-64078200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:64076600-64078600	Enhancers	Brain Angular Gyrus	brain
45	chr2:64076600-64081200	Enhancers	K562	blood
46	chr2:64076800-64078600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:64077000-64078200	Enhancers	Brain Anterior Caudate	brain
48	chr2:64077000-64078800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:64077000-64079200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:64077000-64079400	Weak transcription	Stomach Mucosa	stomach

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