Variant report

Variant	rs62499980
Chromosome Location	chr8:20133714-20133715
allele	C/T
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	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995187	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542827	0.85[AMR][1000 genomes]
rs56256118	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57092179	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60124846	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60828034	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499971	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62499972	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62499973	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62499974	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499975	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499976	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499982	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:68 , 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	chr8:20131200-20134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:20131200-20135400	Enhancers	Fetal Muscle Leg	muscle
18	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
20	chr8:20131800-20133800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:20132000-20134600	Weak transcription	Fetal Lung	lung
22	chr8:20132000-20136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:20132200-20133800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:20132200-20133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:20132200-20133800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:20132200-20134000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:20132200-20134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:20132200-20134200	Weak transcription	Thymus	Thymus
29	chr8:20132200-20134400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:20132200-20135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:20132200-20135200	Weak transcription	Fetal Brain Male	brain
32	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:20132400-20133800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:20132400-20134800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:20132400-20135000	Weak transcription	HSMM	muscle
36	chr8:20132800-20133800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:20132800-20134800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:20132800-20135200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:20132800-20138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:20133000-20133800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:20133000-20134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:20133000-20134400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:20133000-20135400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:20133000-20135400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:20133000-20135400	Enhancers	Brain Germinal Matrix	brain
46	chr8:20133000-20137600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:20133000-20137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:20133200-20133800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:20133200-20134600	Weak transcription	Placenta	Placenta
50	chr8:20133200-20135800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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