Variant report

Variant	rs58725259
Chromosome Location	chr2:178316677-178316678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178315080..178317841-chr2:178326104..178328260,2	K562	blood:
2	chr2:178308571..178311721-chr2:178313471..178317393,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11902861	1.00[EUR][1000 genomes]
rs13410991	0.93[EUR][1000 genomes]
rs1869356	0.93[EUR][1000 genomes]
rs35124835	1.00[EUR][1000 genomes]
rs57867889	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59086514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935427	1.00[ASN][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178295400-178329800	Weak transcription	Pancreas	Pancrea
2	chr2:178295400-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:178295400-178330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:178296600-178319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:178297800-178319600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:178297800-178329800	Weak transcription	Ovary	ovary
8	chr2:178298800-178329200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:178298800-178329800	Weak transcription	Colonic Mucosa	Colon
10	chr2:178298800-178329800	Weak transcription	Thymus	Thymus
11	chr2:178298800-178330200	Weak transcription	Aorta	Aorta
12	chr2:178298800-178330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:178298800-178331600	Weak transcription	NHDF-Ad	bronchial
14	chr2:178298800-178336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:178298800-178357800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:178299000-178329800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:178299000-178330200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:178299400-178357800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:178300800-178331400	Weak transcription	Psoas Muscle	Psoas
20	chr2:178301000-178330200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:178301600-178339800	Weak transcription	Small Intestine	intestine
22	chr2:178301800-178339200	Weak transcription	Hela-S3	cervix
23	chr2:178302200-178329400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:178304400-178338800	Weak transcription	HMEC	breast
25	chr2:178305200-178329800	Weak transcription	Esophagus	oesophagus
26	chr2:178305600-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:178305800-178329400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:178305800-178330200	Weak transcription	Brain Substantia Nigra	brain
29	chr2:178306000-178331200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:178306600-178330400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:178307200-178330200	Weak transcription	NHEK	skin
32	chr2:178307600-178319800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:178307800-178330600	Weak transcription	Osteobl	bone
34	chr2:178308800-178329400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:178309200-178329800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:178310200-178320600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:178310800-178319600	Weak transcription	HUVEC	blood vessel
38	chr2:178310800-178330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:178311200-178330200	Weak transcription	Lung	lung
40	chr2:178312200-178321600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:178312600-178317000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:178313000-178330400	Weak transcription	Right Atrium	heart
43	chr2:178313400-178330200	Weak transcription	HSMMtube	muscle
44	chr2:178313800-178331400	Weak transcription	NH-A	brain
45	chr2:178314000-178319400	Weak transcription	K562	blood
46	chr2:178314000-178319600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:178314000-178320600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:178314000-178327600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:178314000-178331600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:178314200-178318200	Weak transcription	Primary T cells fromperipheralblood	blood

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