Variant report

Variant	rs12500663
Chromosome Location	chr4:147442492-147442493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147419888..147422305-chr4:147440124..147442502,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12501518	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102252	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357084	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357086	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357087	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147439200-147444400	Active TSS	GM12878-XiMat	blood
2	chr4:147440600-147444200	Active TSS	Psoas Muscle	Psoas
3	chr4:147441000-147444200	Active TSS	K562	blood
4	chr4:147441000-147444400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:147441000-147444400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:147441000-147444400	Active TSS	Right Atrium	heart
7	chr4:147441000-147444600	Active TSS	Fetal Brain Female	brain
8	chr4:147441200-147442600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:147441200-147442800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:147441200-147444200	Active TSS	Ovary	ovary
11	chr4:147441400-147442600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:147441400-147444000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:147441400-147444200	Active TSS	NHLF	lung
14	chr4:147441400-147444400	Active TSS	HMEC	breast
15	chr4:147441400-147444400	Active TSS	NHDF-Ad	bronchial
16	chr4:147441600-147442800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:147441600-147442800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:147441600-147443800	Active TSS	NH-A	brain
19	chr4:147441600-147444000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:147441600-147444200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:147441800-147442600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr4:147441800-147442600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:147441800-147442800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr4:147441800-147442800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr4:147441800-147442800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr4:147441800-147443200	Active TSS	Primary T cells fromperipheralblood	blood
27	chr4:147441800-147444000	Active TSS	HSMM	muscle
28	chr4:147441800-147444000	Active TSS	NHEK	skin
29	chr4:147441800-147444200	Active TSS	Aorta	Aorta
30	chr4:147441800-147444200	Active TSS	Colonic Mucosa	Colon
31	chr4:147441800-147444200	Active TSS	Stomach Mucosa	stomach
32	chr4:147441800-147444200	Active TSS	HSMMtube	muscle
33	chr4:147441800-147444400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:147441800-147444400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:147441800-147444400	Active TSS	Right Ventricle	heart
36	chr4:147441800-147444600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:147442000-147442600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:147442000-147442600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr4:147442000-147442800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr4:147442000-147443200	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr4:147442000-147443200	Active TSS	Dnd41	blood
42	chr4:147442000-147443600	Active TSS	Lung	lung
43	chr4:147442000-147443800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:147442000-147443800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:147442000-147443800	Active TSS	Fetal Brain Male	brain
46	chr4:147442000-147443800	Active TSS	Fetal Muscle Leg	muscle
47	chr4:147442000-147444000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:147442000-147444000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr4:147442000-147444000	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr4:147442000-147444000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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