Variant report

Variant	rs539378603
Chromosome Location	chr8:65493172-65493173
allele	A/G
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	chr8:65491671-65494766	GM15510	blood:	n/a	n/a
2	POLR2A	chr8:65491654-65494727	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:65489458-65495014	GM18951	blood:	n/a	n/a
4	POLR2A	chr8:65492126-65493612	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:65491681-65494603	GM18526	blood:	n/a	n/a
6	POLR2A	chr8:65492175-65493821	GM10847	blood:	n/a	n/a
7	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
8	SUZ12	chr8:65492486-65494683	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:65490848-65494958	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr8:65491503-65495107	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr8:65491730-65494687	GM12892	blood:	n/a	n/a
12	POLR2A	chr8:65491561-65494758	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:65491737-65494740	GM18505	blood:	n/a	n/a
14	CTBP2	chr8:65492814-65494720	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:65490914-65493622	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr8:65491568-65493291	GM12891	blood:	n/a	n/a
17	ELF1	chr8:65492891-65493180	GM12878	blood:	n/a	chr8:65493035-65493047 chr8:65493038-65493050 chr8:65493040-65493049 chr8:65493037-65493046
18	CHD1	chr8:65491785-65495139	GM12878	blood:	n/a	chr8:65492726-65492733
19	POLR2A	chr8:65491520-65493185	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr8:65489580-65494694	GM19193	blood:	n/a	n/a
21	POLR2A	chr8:65489464-65493494	GM12891	blood:	n/a	n/a
22	POLR2A	chr8:65491759-65495195	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:65491319-65495630	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254102	TF binding region

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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv972538	chr8:65489860-65495278	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
3	esv3375828	chr8:65492023-65494771	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	esv3401021	chr8:65492623-65495371	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
5	esv3443202	chr8:65492948-65495196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65490800-65495000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr8:65491600-65494400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr8:65491800-65494600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:65491800-65496000	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr8:65492200-65493200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr8:65492200-65493200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr8:65492200-65493200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:65492200-65493200	Bivalent Enhancer	Fetal Lung	lung
9	chr8:65492200-65493200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
10	chr8:65492200-65494800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:65492200-65494800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr8:65492200-65494800	Active TSS	Right Atrium	heart
13	chr8:65492200-65495200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:65492400-65493200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr8:65492400-65493400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:65492400-65493400	Active TSS	Adipose Nuclei	Adipose
17	chr8:65492400-65493600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:65492400-65493800	Bivalent/Poised TSS	Psoas Muscle	Psoas
19	chr8:65492400-65494200	Active TSS	Brain Substantia Nigra	brain
20	chr8:65492400-65494200	Bivalent/Poised TSS	A549	lung
21	chr8:65492400-65494200	Active TSS	GM12878-XiMat	blood
22	chr8:65492400-65494400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr8:65492600-65493200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:65492600-65493200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:65492600-65493200	Flanking Active TSS	Liver	Liver
26	chr8:65492600-65493200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr8:65492600-65493200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr8:65492600-65493200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr8:65492600-65493200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr8:65492600-65493200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr8:65492600-65493200	Bivalent/Poised TSS	NHLF	lung
32	chr8:65492600-65493400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
33	chr8:65492600-65493400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:65492600-65493400	Flanking Bivalent TSS/Enh	Thymus	Thymus
35	chr8:65492600-65493600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:65492600-65493600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr8:65492600-65493600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
38	chr8:65492600-65493600	Active TSS	Aorta	Aorta
39	chr8:65492600-65493800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:65492600-65493800	Bivalent/Poised TSS	Esophagus	oesophagus
41	chr8:65492600-65494000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
42	chr8:65492600-65494200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:65492600-65494200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:65492600-65494200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:65492600-65494200	Active TSS	Rectal Smooth Muscle	rectum
46	chr8:65492600-65494600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:65492600-65494600	Bivalent Enhancer	Placenta	Placenta
48	chr8:65492600-65494600	Bivalent/Poised TSS	Left Ventricle	heart
49	chr8:65492600-65494600	Bivalent/Poised TSS	Ovary	ovary
50	chr8:65492800-65493200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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