Variant report

Variant	rs8008602
Chromosome Location	chr14:81890171-81890172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10134056	0.86[JPT][hapmap]
rs12435764	0.95[CHB][hapmap]
rs12889439	0.86[ASN][1000 genomes]
rs3742550	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3844535	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144547	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004137	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020575	0.95[CHB][hapmap]

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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
7	chr14:81881000-81892000	Weak transcription	HMEC	breast
8	chr14:81883000-81893000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:81885200-81893600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81885200-81893600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81886000-81891000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:81886200-81893600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:81886200-81894000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:81886400-81893600	Weak transcription	Gastric	stomach
15	chr14:81886600-81892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:81886600-81893600	Weak transcription	NHEK	skin
17	chr14:81886800-81893600	Weak transcription	Esophagus	oesophagus
18	chr14:81886800-81894000	Weak transcription	Fetal Intestine Small	intestine
19	chr14:81887400-81891200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:81887400-81891200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:81887400-81892400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:81887400-81893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:81887600-81893400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:81888000-81890800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr14:81888200-81890400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:81888200-81890600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:81888200-81892000	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:81888600-81893400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:81888800-81890400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:81888800-81890400	Enhancers	Adipose Nuclei	Adipose
31	chr14:81888800-81890600	Enhancers	Fetal Muscle Leg	muscle
32	chr14:81888800-81893600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:81889000-81890400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr14:81889400-81890200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr14:81889400-81890200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:81889400-81890200	Flanking Active TSS	K562	blood
37	chr14:81889400-81890400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:81889400-81890400	Enhancers	Ovary	ovary
39	chr14:81889400-81890400	Enhancers	NHDF-Ad	bronchial
40	chr14:81889400-81890600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:81889400-81890800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr14:81889400-81891200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:81889800-81890200	Enhancers	Brain Germinal Matrix	brain
44	chr14:81889800-81890400	Enhancers	Fetal Lung	lung
45	chr14:81889800-81890400	Enhancers	HSMM	muscle
46	chr14:81889800-81890600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:81889800-81890600	Enhancers	Brain Anterior Caudate	brain
48	chr14:81889800-81890600	Enhancers	Spleen	Spleen
49	chr14:81889800-81890800	Enhancers	Placenta	Placenta
50	chr14:81889800-81891200	Enhancers	Primary neutrophils fromperipheralblood	blood

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