Variant report

Variant	rs544930066
Chromosome Location	chr8:117857815-117857816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117854618..117858375-chr8:117860492..117864131,4	K562	blood:
2	chr8:117854712..117858080-chr8:117883055..117888027,5	K562	blood:
3	chr8:117855246..117857317-chr8:117857699..117859236,2	MCF-7	breast:
4	chr8:117855517..117858008-chr8:117880240..117882467,2	K562	blood:
5	chr8:117855745..117858425-chr8:117866524..117868307,3	K562	blood:
6	chr8:117847223..117849711-chr8:117856512..117859116,2	MCF-7	breast:
7	chr8:117853348..117856014-chr8:117857565..117859275,2	MCF-7	breast:
8	chr8:117848684..117853710-chr8:117854068..117860611,8	K562	blood:
9	chr8:117857607..117860460-chr8:117874420..117876566,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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	nsv982142	chr8:117857769-117860673	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:117848200-117858600	Weak transcription	HepG2	liver
3	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:117850000-117859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:117850800-117858200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:117850800-117858800	Weak transcription	Ovary	ovary
7	chr8:117852000-117859000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:117852400-117859200	Weak transcription	Fetal Heart	heart
9	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:117852600-117858000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:117852600-117859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:117852800-117860800	Weak transcription	Small Intestine	intestine
13	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:117853200-117858400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:117853400-117859000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:117853400-117859000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:117853400-117860000	Weak transcription	Esophagus	oesophagus
18	chr8:117853600-117858800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:117853600-117858800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:117853800-117858600	Weak transcription	NHEK	skin
21	chr8:117853800-117858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:117854000-117858000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:117854000-117858600	Weak transcription	Fetal Lung	lung
24	chr8:117854200-117858600	Weak transcription	NHDF-Ad	bronchial
25	chr8:117854400-117859600	Weak transcription	Aorta	Aorta
26	chr8:117854600-117858400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:117854600-117858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:117854800-117859200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:117854800-117859600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:117854800-117863800	Weak transcription	Gastric	stomach
31	chr8:117854800-117875000	Strong transcription	Dnd41	blood
32	chr8:117855000-117858600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:117855000-117858800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:117855000-117859200	Weak transcription	Brain Angular Gyrus	brain
35	chr8:117855000-117859800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:117855000-117859800	Weak transcription	Spleen	Spleen
37	chr8:117855000-117860000	Weak transcription	Pancreas	Pancrea
38	chr8:117855200-117861600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:117855200-117870400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr8:117855600-117858000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:117855800-117859000	Weak transcription	K562	blood
43	chr8:117856000-117858800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:117856000-117858800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:117856000-117858800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:117856000-117860400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:117856000-117870600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr8:117856000-117872800	Strong transcription	Fetal Intestine Large	intestine
49	chr8:117856000-117873000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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