Variant report

Variant	rs199781596
Chromosome Location	chr8:117884779-117884780
allele	-/ACAC
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	POLR2A	chr8:117884534-117887510	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:117882604-117887373	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117777450..117780279-chr8:117883824..117887176,3	MCF-7	breast:
2	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

Variant related genes	Relation type
RAD21-AS1	TF binding region
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv387649	chr8:117884779-117884780	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
2	chr8:117864400-117885800	Weak transcription	Gastric	stomach
3	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
4	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
5	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
9	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:117878600-117884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:117879600-117885000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr8:117880000-117884800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:117880200-117884800	Weak transcription	Brain Angular Gyrus	brain
15	chr8:117881200-117884800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
17	chr8:117881600-117884800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:117881600-117885200	Enhancers	Colon Smooth Muscle	Colon
19	chr8:117881600-117885200	Enhancers	Small Intestine	intestine
20	chr8:117881800-117884800	Enhancers	Adipose Nuclei	Adipose
21	chr8:117881800-117884800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:117881800-117885600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:117881800-117885800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:117882200-117884800	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:117882200-117885000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:117882400-117885200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:117882400-117885600	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:117882600-117884800	Enhancers	Fetal Lung	lung
29	chr8:117882600-117884800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:117882600-117885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:117882800-117885400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:117882800-117885600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:117883000-117885000	Enhancers	Brain Hippocampus Middle	brain
34	chr8:117883000-117885200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:117883200-117885000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:117883200-117885200	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:117883200-117885200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:117883200-117885800	Weak transcription	Lung	lung
39	chr8:117883400-117884800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:117883400-117884800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:117883400-117885000	Weak transcription	Ovary	ovary
42	chr8:117883400-117885200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:117883400-117885200	Weak transcription	Placenta	Placenta
44	chr8:117883400-117885600	Weak transcription	Left Ventricle	heart
45	chr8:117883600-117887600	Active TSS	HSMMtube	muscle
46	chr8:117883800-117884800	Enhancers	Fetal Intestine Large	intestine
47	chr8:117883800-117885200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:117883800-117885400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:117884000-117884800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:117884000-117884800	Enhancers	Duodenum Mucosa	Duodenum

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