Variant report

Variant	rs1586239
Chromosome Location	chr8:20135801-20135802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11204107	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11204108	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11778006	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11785891	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11786006	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11786102	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13256776	0.82[JPT][hapmap]
rs1476245	0.87[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1476246	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2132702	0.82[JPT][hapmap]
rs2132703	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2410635	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61354672	0.84[ASN][1000 genomes]
rs729360	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs729361	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7818837	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs7834385	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843875	0.83[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs953074	0.85[AMR][1000 genomes];0.85[EUR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
2	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:20129600-20139400	Weak transcription	NH-A	brain
4	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
5	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
8	chr8:20132000-20136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:20132800-20138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:20133000-20137600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:20133000-20137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:20133200-20136000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:20133200-20136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:20133400-20136000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:20133400-20137600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:20133400-20139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:20133600-20136000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:20133600-20136800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:20133600-20139400	Weak transcription	HSMMtube	muscle
21	chr8:20133800-20136000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr8:20133800-20136000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:20133800-20136400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:20134000-20136000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:20134200-20136000	Genic enhancers	Dnd41	blood
26	chr8:20134200-20136400	Enhancers	Thymus	Thymus
27	chr8:20134600-20136000	Enhancers	Adipose Nuclei	Adipose
28	chr8:20134800-20136000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:20134800-20136800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr8:20134800-20139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:20135000-20139200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:20135200-20136000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:20135200-20136000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:20135200-20136000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:20135200-20136000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:20135200-20136000	Enhancers	Esophagus	oesophagus
37	chr8:20135200-20136000	Enhancers	Lung	lung
38	chr8:20135200-20136000	Enhancers	Spleen	Spleen
39	chr8:20135400-20136000	Enhancers	Brain Anterior Caudate	brain
40	chr8:20135400-20136400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:20135400-20137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:20135400-20137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:20135400-20137600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:20135400-20137600	Weak transcription	Fetal Brain Male	brain
45	chr8:20135400-20138600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:20135400-20139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:20135400-20139400	Weak transcription	Osteobl	bone
48	chr8:20135400-20139600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
50	chr8:20135600-20136000	Strong transcription	HSMM	muscle

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