Variant report

Variant	rs60131586
Chromosome Location	chr2:178296924-178296925
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	chr2:178262134..178264681-chr2:178295716..178297615,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16865271	0.82[AFR][1000 genomes]
rs16865285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1867904	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979737	0.91[AFR][1000 genomes];1.00[AMR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178287200-178300000	Weak transcription	Hela-S3	cervix
2	chr2:178287200-178310600	Weak transcription	Stomach Mucosa	stomach
3	chr2:178287600-178314200	Weak transcription	Gastric	stomach
4	chr2:178288000-178297600	Weak transcription	HUVEC	blood vessel
5	chr2:178289400-178299400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:178291000-178299400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:178291600-178299200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr2:178291800-178299000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr2:178291800-178299200	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr2:178292800-178299400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr2:178293600-178298800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr2:178293800-178298800	ZNF genes & repeats	Dnd41	blood
13	chr2:178293800-178299000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:178294000-178297000	ZNF genes & repeats	Fetal Thymus	thymus
15	chr2:178294000-178297800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr2:178294000-178299400	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr2:178294200-178297000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:178294200-178297800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:178294200-178297800	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr2:178294200-178298400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr2:178294200-178299400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:178294400-178298800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr2:178295000-178297000	Weak transcription	Fetal Kidney	kidney
24	chr2:178295000-178297400	Weak transcription	Ovary	ovary
25	chr2:178295200-178297400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:178295400-178297000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:178295400-178297000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:178295400-178297000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:178295400-178297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:178295400-178297400	Weak transcription	A549	lung
31	chr2:178295400-178297400	Weak transcription	HSMM	muscle
32	chr2:178295400-178297600	Weak transcription	Fetal Intestine Large	intestine
33	chr2:178295400-178297600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:178295400-178329800	Weak transcription	Pancreas	Pancrea
35	chr2:178295400-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:178295400-178330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:178295600-178297000	Weak transcription	K562	blood
38	chr2:178295600-178298000	Weak transcription	NHDF-Ad	bronchial
39	chr2:178295600-178306200	Weak transcription	Osteobl	bone
40	chr2:178296000-178298400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr2:178296000-178298800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:178296000-178299200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr2:178296200-178298800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr2:178296200-178299200	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr2:178296400-178297400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:178296400-178298800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:178296400-178299200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:178296600-178297000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:178296600-178297000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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