Variant report

Variant	rs545954119
Chromosome Location	chr8:20056994-20056995
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	chr8:20047045..20049449-chr8:20055849..20058080,2	K562	blood:
2	chr8:19800611..19802825-chr8:20055037..20057972,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	chr8:20054000-20057000	Active TSS	Brain Angular Gyrus	brain
2	chr8:20054000-20057000	Active TSS	Brain Cingulate Gyrus	brain
3	chr8:20054000-20057000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:20054000-20057000	Active TSS	Stomach Smooth Muscle	stomach
5	chr8:20054200-20057000	Active TSS	HSMMtube	muscle
6	chr8:20054400-20057000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:20054400-20057000	Active TSS	HSMM	muscle
8	chr8:20054400-20057200	Active TSS	Lung	lung
9	chr8:20054400-20057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:20054400-20058400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:20054600-20057600	Active TSS	Fetal Intestine Large	intestine
12	chr8:20054600-20057800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:20055200-20057000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr8:20055200-20057000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr8:20055200-20057000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:20055200-20057000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:20055200-20057000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr8:20055200-20057000	Flanking Active TSS	Liver	Liver
19	chr8:20055400-20057000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:20055400-20059200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr8:20055600-20057000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:20055800-20057000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:20055800-20057000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr8:20055800-20057000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr8:20055800-20057000	Flanking Active TSS	Fetal Brain Male	brain
26	chr8:20055800-20057000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:20055800-20057000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:20055800-20057200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:20055800-20057800	Flanking Active TSS	Dnd41	blood
30	chr8:20056000-20057000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:20056000-20057000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr8:20056000-20059400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:20056000-20063800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:20056000-20066200	Weak transcription	Esophagus	oesophagus
35	chr8:20056200-20057000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:20056200-20057000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:20056200-20057000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr8:20056200-20057000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:20056200-20057000	Flanking Active TSS	K562	blood
40	chr8:20056200-20057200	Weak transcription	Fetal Thymus	thymus
41	chr8:20056200-20057800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:20056200-20059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:20056200-20060800	Weak transcription	Placenta	Placenta
44	chr8:20056200-20063000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:20056200-20063000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:20056200-20068200	Weak transcription	Colonic Mucosa	Colon
47	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:20056400-20057000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr8:20056400-20057000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:20056400-20057000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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