Variant report

Variant	rs345763
Chromosome Location	chr15:33405052-33405053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12911944	0.90[JPT][hapmap]
rs2045188	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs2045189	0.94[CEU][hapmap]
rs2168218	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2444955	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2468736	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2468737	0.94[EUR][1000 genomes]
rs2468761	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs345761	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs345764	0.84[AMR][1000 genomes]
rs3861198	0.90[JPT][hapmap]
rs3861199	0.90[JPT][hapmap]
rs815481	0.86[AMR][1000 genomes];0.88[EUR][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	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33397600-33406000	Weak transcription	NHEK	skin
2	chr15:33398400-33406200	Weak transcription	Fetal Thymus	thymus
3	chr15:33399600-33405800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:33401200-33405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:33403000-33406600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr15:33403400-33405200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr15:33403400-33405800	Weak transcription	Hela-S3	cervix
8	chr15:33403600-33405200	Enhancers	Fetal Kidney	kidney
9	chr15:33403600-33405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:33403600-33407600	Weak transcription	Fetal Heart	heart
11	chr15:33403600-33411400	Weak transcription	HSMM	muscle
12	chr15:33403800-33411400	Weak transcription	HSMMtube	muscle
13	chr15:33404000-33405600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:33404000-33405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:33404000-33406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:33404000-33406000	Weak transcription	Osteobl	bone
17	chr15:33404000-33407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:33404000-33407600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:33404000-33407800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:33404000-33407800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:33404000-33407800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:33404000-33407800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:33404000-33408400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:33404400-33406000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:33404600-33405200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr15:33404600-33405800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr15:33404800-33405200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr15:33404800-33405200	Flanking Active TSS	Placenta	Placenta
29	chr15:33404800-33405400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr15:33404800-33408000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:33405000-33405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:33405000-33405200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:33405000-33405200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:33405000-33405200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:33405000-33405200	Enhancers	Left Ventricle	heart
36	chr15:33405000-33405200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr15:33405000-33405200	Enhancers	NHDF-Ad	bronchial
38	chr15:33405000-33405200	Flanking Active TSS	NHLF	lung
39	chr15:33405000-33407200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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