Variant report

Variant	rs62519837
Chromosome Location	chr8:65494023-65494024
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	chr8:65493626-65495347	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:65491671-65494766	GM15510	blood:	n/a	n/a
3	YY1	chr8:65493983-65494506	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:65491654-65494727	GM12892	blood:	n/a	n/a
5	POLR2A	chr8:65489458-65495014	GM18951	blood:	n/a	n/a
6	POLR2A	chr8:65491681-65494603	GM18526	blood:	n/a	n/a
7	E2F6	chr8:65493307-65494323	H1-hESC	embryonic stem cell:	n/a	chr8:65493332-65493341 chr8:65493334-65493343
8	E2F6	chr8:65493315-65494391	H1-hESC	embryonic stem cell:	n/a	chr8:65493332-65493341 chr8:65493334-65493343
9	POLR2A	chr8:65494020-65494513	GM12892	blood:	n/a	n/a
10	BHLHE40	chr8:65493700-65494352	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
12	ZNF143	chr8:65493387-65494176	GM12878	blood:	n/a	n/a
13	SUZ12	chr8:65492486-65494683	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:65493917-65494613	GM12892	blood:	n/a	n/a
15	POLR2A	chr8:65490848-65494958	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr8:65491503-65495107	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr8:65491730-65494687	GM12892	blood:	n/a	n/a
18	POLR2A	chr8:65493992-65494593	GM12892	blood:	n/a	n/a
19	CTCF	chr8:65494000-65494150	GM12867	blood:	n/a	n/a
20	POLR2A	chr8:65491561-65494758	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:65491737-65494740	GM18505	blood:	n/a	n/a
22	CTBP2	chr8:65492814-65494720	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr8:65494013-65494572	GM12891	blood:	n/a	n/a
24	MAX	chr8:65493303-65494591	H1-hESC	embryonic stem cell:	n/a	n/a
25	FOXP2	chr8:65493669-65494071	SK-N-MC	brain:	n/a	n/a
26	MAX	chr8:65493455-65494365	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr8:65493409-65494453	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr8:65491785-65495139	GM12878	blood:	n/a	chr8:65492726-65492733
29	POLR2A	chr8:65493300-65495011	GM12891	blood:	n/a	n/a
30	PAX5	chr8:65493951-65494300	GM12878	blood:	n/a	n/a
31	SIN3A	chr8:65493717-65494402	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:65489580-65494694	GM19193	blood:	n/a	n/a
33	POLR2A	chr8:65491759-65495195	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:65491319-65495630	GM12878	blood:	n/a	n/a
35	CHD2	chr8:65493985-65494085	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:65493301-65494562	GM12891	blood:	n/a	n/a
37	POU2F2	chr8:65493987-65494384	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:96 , 50 per page) page: 1 2

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	chr8:65492200-65494800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:65492200-65494800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr8:65492200-65494800	Active TSS	Right Atrium	heart
8	chr8:65492200-65495200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:65492400-65494200	Active TSS	Brain Substantia Nigra	brain
10	chr8:65492400-65494200	Bivalent/Poised TSS	A549	lung
11	chr8:65492400-65494200	Active TSS	GM12878-XiMat	blood
12	chr8:65492400-65494400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
13	chr8:65492600-65494200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:65492600-65494200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:65492600-65494200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:65492600-65494200	Active TSS	Rectal Smooth Muscle	rectum
17	chr8:65492600-65494600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:65492600-65494600	Bivalent Enhancer	Placenta	Placenta
19	chr8:65492600-65494600	Bivalent/Poised TSS	Left Ventricle	heart
20	chr8:65492600-65494600	Bivalent/Poised TSS	Ovary	ovary
21	chr8:65492800-65494200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr8:65492800-65494400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:65492800-65494600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:65492800-65494600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr8:65492800-65494600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:65492800-65494600	Bivalent/Poised TSS	NHEK	skin
27	chr8:65492800-65494800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:65492800-65495000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:65493000-65494200	Active TSS	HepG2	liver
30	chr8:65493000-65494400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr8:65493000-65494400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:65493000-65494400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr8:65493000-65494400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:65493000-65494400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:65493000-65494400	Active TSS	Brain Angular Gyrus	brain
36	chr8:65493000-65494800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:65493000-65494800	Active TSS	Brain Cingulate Gyrus	brain
38	chr8:65493000-65495000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:65493200-65494800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:65493200-65495400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr8:65493400-65494200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:65493400-65494400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr8:65493400-65494400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:65493400-65494400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
45	chr8:65493400-65494400	Flanking Active TSS	Pancreas	Pancrea
46	chr8:65493400-65494400	Bivalent/Poised TSS	Thymus	Thymus
47	chr8:65493400-65494400	Flanking Active TSS	Spleen	Spleen
48	chr8:65493400-65494600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:65493400-65494600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:65493400-65494600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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