Variant report

Variant	rs62499982
Chromosome Location	chr8:20134176-20134177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11985274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995187	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542827	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56256118	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57092179	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60124846	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60828034	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499971	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62499972	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62499973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62499974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499975	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499976	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499980	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499981	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20126600-20135200	Weak transcription	Right Ventricle	heart
2	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
3	chr8:20126800-20135200	Weak transcription	Lung	lung
4	chr8:20126800-20135200	Weak transcription	Right Atrium	heart
5	chr8:20126800-20135400	Weak transcription	Left Ventricle	heart
6	chr8:20127600-20134400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:20129600-20135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
9	chr8:20129600-20139400	Weak transcription	NH-A	brain
10	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
11	chr8:20130400-20135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:20131000-20135000	Weak transcription	Fetal Brain Female	brain
13	chr8:20131000-20135200	Weak transcription	Spleen	Spleen
14	chr8:20131000-20135400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:20131200-20135400	Enhancers	Fetal Muscle Leg	muscle
17	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
19	chr8:20132000-20134600	Weak transcription	Fetal Lung	lung
20	chr8:20132000-20136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:20132200-20134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:20132200-20134200	Weak transcription	Thymus	Thymus
23	chr8:20132200-20134400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:20132200-20135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:20132200-20135200	Weak transcription	Fetal Brain Male	brain
26	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:20132400-20134800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:20132400-20135000	Weak transcription	HSMM	muscle
29	chr8:20132800-20134800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:20132800-20135200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:20132800-20138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:20133000-20134400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:20133000-20135400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr8:20133000-20135400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:20133000-20135400	Enhancers	Brain Germinal Matrix	brain
36	chr8:20133000-20137600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:20133000-20137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:20133200-20134600	Weak transcription	Placenta	Placenta
39	chr8:20133200-20135800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:20133200-20135800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:20133200-20136000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:20133200-20136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:20133400-20135200	Weak transcription	Esophagus	oesophagus
44	chr8:20133400-20135800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:20133400-20136000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:20133400-20137600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:20133400-20139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:20133600-20135400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:20133600-20135600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:20133600-20135800	Enhancers	Primary T helper cells fromperipheralblood	blood

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