Variant report

Variant	rs57127754
Chromosome Location	chr8:20115963-20115964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20104516..20107497-chr8:20115671..20117806,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28368992	1.00[EUR][1000 genomes]
rs28475243	1.00[EUR][1000 genomes]
rs28485611	1.00[EUR][1000 genomes]
rs28552383	1.00[EUR][1000 genomes]
rs28621370	1.00[EUR][1000 genomes]
rs2898498	1.00[EUR][1000 genomes]
rs34062067	1.00[EUR][1000 genomes]
rs57435297	1.00[EUR][1000 genomes]
rs58835058	1.00[EUR][1000 genomes]
rs6986012	1.00[EUR][1000 genomes]
rs7009375	1.00[EUR][1000 genomes]
rs73669730	1.00[EUR][1000 genomes]
rs73669753	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73669754	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73669756	1.00[EUR][1000 genomes]
rs7834224	1.00[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20096800-20119400	Weak transcription	Right Atrium	heart
2	chr8:20102400-20118800	Weak transcription	NH-A	brain
3	chr8:20103000-20119400	Strong transcription	Dnd41	blood
4	chr8:20104200-20118800	Weak transcription	Fetal Intestine Large	intestine
5	chr8:20106200-20119800	Weak transcription	Osteobl	bone
6	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:20110200-20118400	Weak transcription	Fetal Lung	lung
8	chr8:20110200-20119000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:20110600-20116200	Weak transcription	HSMM	muscle
10	chr8:20110800-20119400	Weak transcription	Thymus	Thymus
11	chr8:20110800-20120000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:20111200-20118000	Weak transcription	Esophagus	oesophagus
13	chr8:20111400-20122000	Weak transcription	Gastric	stomach
14	chr8:20111600-20119200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:20112600-20116000	Weak transcription	Brain Germinal Matrix	brain
16	chr8:20112600-20117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:20112600-20117800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:20112600-20119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:20112600-20120400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:20112800-20118400	Weak transcription	Fetal Thymus	thymus
21	chr8:20112800-20118600	Weak transcription	Placenta	Placenta
22	chr8:20112800-20118600	Weak transcription	NHLF	lung
23	chr8:20112800-20119000	Weak transcription	HSMMtube	muscle
24	chr8:20112800-20119200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:20112800-20119200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:20113000-20117600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:20113000-20118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:20113000-20118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:20113000-20118800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:20113000-20118800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:20113200-20118000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:20113200-20118400	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:20113200-20118600	Weak transcription	Brain Anterior Caudate	brain
34	chr8:20113200-20118800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:20113200-20118800	Weak transcription	Fetal Brain Female	brain
36	chr8:20113200-20119000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:20113200-20119200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:20113200-20122200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:20114200-20119200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:20114400-20117800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:20114600-20116400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:20115000-20118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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