Variant report

Variant	rs62499973
Chromosome Location	chr8:20131277-20131278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr8:20130672-20131301	HUVEC	blood vessel:	n/a	chr8:20130882-20130896

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20130931..20132750-chr8:20158431..20160152,2	K562	blood:
2	chr8:20130022..20131576-chr8:20131676..20133192,2	MCF-7	breast:

Variant related genes	Relation type
LZTS1-AS1	TF binding region

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

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

rs_ID	r²[population]
rs11985274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11995187	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[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];0.85[ASN][1000 genomes]
rs60124846	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60828034	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[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]
rs62499974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62499975	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62499976	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62499980	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62499981	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62499982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20120600-20132800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:20126400-20132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:20126600-20132200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:20126600-20132400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:20126600-20132600	Enhancers	Placenta	Placenta
6	chr8:20126600-20135200	Weak transcription	Right Ventricle	heart
7	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
8	chr8:20126800-20135200	Weak transcription	Lung	lung
9	chr8:20126800-20135200	Weak transcription	Right Atrium	heart
10	chr8:20126800-20135400	Weak transcription	Left Ventricle	heart
11	chr8:20127200-20131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:20127600-20134400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:20128200-20131600	Weak transcription	Fetal Kidney	kidney
14	chr8:20129000-20131400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:20129000-20132000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:20129000-20133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:20129000-20133200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:20129200-20132200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:20129600-20133400	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:20129600-20135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
22	chr8:20129600-20139400	Weak transcription	NH-A	brain
23	chr8:20129800-20131800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:20129800-20133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
26	chr8:20130000-20132000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:20130000-20132200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:20130000-20132400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:20130200-20132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:20130200-20133000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:20130400-20132400	Genic enhancers	HSMM	muscle
32	chr8:20130400-20132600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:20130400-20135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:20130600-20131800	Enhancers	Fetal Stomach	stomach
35	chr8:20130600-20132000	Enhancers	Fetal Lung	lung
36	chr8:20130600-20132200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr8:20130600-20132200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr8:20130600-20132200	Enhancers	Thymus	Thymus
39	chr8:20130600-20132400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:20130600-20133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:20130800-20131400	Weak transcription	Fetal Brain Male	brain
42	chr8:20130800-20131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:20130800-20131800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:20130800-20131800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:20130800-20131800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:20130800-20131800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:20130800-20131800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:20130800-20132000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:20130800-20132000	Enhancers	HSMMtube	muscle
50	chr8:20130800-20132200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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