Variant report

Variant	rs11990886
Chromosome Location	chr8:20068261-20068262
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20053671..20056309-chr8:20065573..20068336,2	K562	blood:
2	chr8:20061426..20067342-chr8:20067355..20071432,7	K562	blood:

Variant related genes	Relation type
ENSG00000147416	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11987478	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6998966	1.00[AMR][1000 genomes]
rs8011	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:20059600-20070000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:20061000-20071000	Weak transcription	Fetal Brain Male	brain
5	chr8:20061400-20070800	Weak transcription	Gastric	stomach
6	chr8:20061400-20081200	Strong transcription	Primary B cells from cord blood	blood
7	chr8:20061600-20074800	Strong transcription	Dnd41	blood
8	chr8:20061600-20085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:20061600-20086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:20061800-20079000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:20061800-20079000	Strong transcription	HSMM	muscle
12	chr8:20061800-20079400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:20061800-20087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:20062000-20068400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:20062000-20078200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:20062000-20079600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:20062000-20085000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:20062200-20084400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:20062400-20069600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:20062400-20069600	Weak transcription	Small Intestine	intestine
21	chr8:20062400-20071600	Strong transcription	Liver	Liver
22	chr8:20062400-20079200	Strong transcription	NH-A	brain
23	chr8:20062600-20072000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:20062600-20079800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:20063000-20087200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:20063200-20079400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:20063200-20086600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:20063600-20080000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:20063800-20076600	Strong transcription	Osteobl	bone
30	chr8:20063800-20079400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:20064200-20070200	Weak transcription	Lung	lung
32	chr8:20064400-20069600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:20064400-20070800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:20065400-20081200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:20065400-20081400	Strong transcription	Primary T cells from cord blood	blood
36	chr8:20065400-20081400	Strong transcription	NHEK	skin
37	chr8:20065600-20072000	Strong transcription	Ovary	ovary
38	chr8:20065600-20078400	Strong transcription	NHDF-Ad	bronchial
39	chr8:20065600-20079200	Strong transcription	Left Ventricle	heart
40	chr8:20065600-20086400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:20065800-20069400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:20065800-20079400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:20065800-20079400	Strong transcription	Brain Anterior Caudate	brain
44	chr8:20065800-20080400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:20065800-20086000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:20066200-20074200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:20066200-20079400	Strong transcription	Esophagus	oesophagus
48	chr8:20066200-20081400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:20066400-20068400	Strong transcription	Fetal Heart	heart
50	chr8:20066400-20069000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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