Variant report

Variant	rs62499976
Chromosome Location	chr8:20132828-20132829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20130022..20131576-chr8:20131676..20133192,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11985274	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11995187	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1542827	0.86[AMR][1000 genomes]
rs56256118	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57092179	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60124846	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60828034	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499971	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62499972	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62499973	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62499974	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499975	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499980	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499981	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62499982	0.94[AMR][1000 genomes];0.94[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:66 , 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	chr8:20129000-20133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:20129000-20133200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:20129600-20133400	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:20129600-20135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
12	chr8:20129600-20139400	Weak transcription	NH-A	brain
13	chr8:20129800-20133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
15	chr8:20130200-20133000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:20130400-20135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:20130600-20133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:20131000-20135000	Weak transcription	Fetal Brain Female	brain
19	chr8:20131000-20135200	Weak transcription	Spleen	Spleen
20	chr8:20131000-20135400	Weak transcription	Brain Anterior Caudate	brain
21	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:20131200-20133000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:20131200-20133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:20131200-20133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:20131200-20134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:20131200-20135400	Enhancers	Fetal Muscle Leg	muscle
27	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
29	chr8:20131800-20133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:20131800-20133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:20131800-20133800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:20132000-20133200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:20132000-20133600	Genic enhancers	HSMMtube	muscle
34	chr8:20132000-20134600	Weak transcription	Fetal Lung	lung
35	chr8:20132000-20136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:20132200-20133000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:20132200-20133000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:20132200-20133000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:20132200-20133200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:20132200-20133600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:20132200-20133800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:20132200-20133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:20132200-20133800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:20132200-20134000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:20132200-20134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:20132200-20134200	Weak transcription	Thymus	Thymus
47	chr8:20132200-20134400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:20132200-20135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:20132200-20135200	Weak transcription	Fetal Brain Male	brain
50	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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