Variant report

Variant	rs17092173
Chromosome Location	chr8:20091975-20091976
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	chr8:20086233..20088628-chr8:20091921..20094349,2	K562	blood:

Variant related genes	Relation type
ENSG00000222267	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17092045	1.00[AMR][1000 genomes]
rs17092048	1.00[AMR][1000 genomes]
rs17092129	1.00[AMR][1000 genomes]
rs17092131	1.00[AMR][1000 genomes]
rs17092137	1.00[AMR][1000 genomes]
rs56343070	1.00[AMR][1000 genomes]
rs57299806	1.00[AMR][1000 genomes]
rs57880800	1.00[AMR][1000 genomes]
rs59666177	1.00[AMR][1000 genomes]
rs7834427	1.00[AMR][1000 genomes]
rs7845217	1.00[AMR][1000 genomes]
rs903995	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20079400-20093800	Weak transcription	Right Ventricle	heart
2	chr8:20083800-20095600	Weak transcription	Pancreas	Pancrea
3	chr8:20084600-20093400	Weak transcription	Spleen	Spleen
4	chr8:20089400-20092000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:20089400-20092600	Weak transcription	Fetal Kidney	kidney
6	chr8:20089400-20093000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:20089800-20092600	Weak transcription	Fetal Lung	lung
8	chr8:20089800-20093200	Enhancers	Dnd41	blood
9	chr8:20089800-20093600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:20089800-20096400	Weak transcription	Right Atrium	heart
11	chr8:20090000-20092000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:20090000-20103800	Weak transcription	HSMM	muscle
13	chr8:20090200-20093400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:20090200-20102800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:20090600-20092000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:20090800-20092000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr8:20091000-20092000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr8:20091000-20092000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:20091000-20092600	Enhancers	HSMMtube	muscle
20	chr8:20091000-20093200	Enhancers	Fetal Brain Female	brain
21	chr8:20091000-20094800	Enhancers	Fetal Thymus	thymus
22	chr8:20091200-20092200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr8:20091200-20093200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:20091200-20103800	Weak transcription	NHLF	lung
25	chr8:20091400-20093800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:20091400-20094800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr8:20091600-20092000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr8:20091600-20092000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr8:20091600-20093000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr8:20091600-20093000	Enhancers	Thymus	Thymus
31	chr8:20091600-20093800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:20091800-20092000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
33	chr8:20091800-20092000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr8:20091800-20092000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr8:20091800-20092000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr8:20091800-20092200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr8:20091800-20092200	Bivalent Enhancer	Primary T cells from cord blood	blood
38	chr8:20091800-20092400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:20091800-20092600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:20091800-20092600	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr8:20091800-20093000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:20091800-20093000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:20091800-20094400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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