Variant report

Variant	rs62519835
Chromosome Location	chr8:65493532-65493533
allele	A/T
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	CTCF	chr8:65493440-65493590	GM12864	blood:	n/a	n/a
2	POLR2A	chr8:65491671-65494766	GM15510	blood:	n/a	n/a
3	POLR2A	chr8:65491654-65494727	GM12892	blood:	n/a	n/a
4	POLR2A	chr8:65493323-65493592	GM12891	blood:	n/a	n/a
5	POLR2A	chr8:65489458-65495014	GM18951	blood:	n/a	n/a
6	CTCF	chr8:65493420-65493570	GM12872	blood:	n/a	n/a
7	POLR2A	chr8:65492126-65493612	GM12878	blood:	n/a	n/a
8	CTCF	chr8:65493460-65493610	GM12874	blood:	n/a	n/a
9	POLR2A	chr8:65491681-65494603	GM18526	blood:	n/a	n/a
10	E2F6	chr8:65493307-65494323	H1-hESC	embryonic stem cell:	n/a	chr8:65493332-65493341 chr8:65493334-65493343
11	MXI1	chr8:65493532-65493624	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:65492175-65493821	GM10847	blood:	n/a	n/a
13	CTCF	chr8:65493440-65493620	GM19238	blood:	n/a	n/a
14	CHD2	chr8:65493408-65493757	GM12878	blood:	n/a	n/a
15	CTCF	chr8:65493460-65493610	GM12868	blood:	n/a	n/a
16	E2F6	chr8:65493315-65494391	H1-hESC	embryonic stem cell:	n/a	chr8:65493332-65493341 chr8:65493334-65493343
17	YY1	chr8:65493397-65493692	GM12878	blood:	n/a	n/a
18	CTCF	chr8:65493440-65493590	GM12874	blood:	n/a	n/a
19	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
20	ZNF143	chr8:65493387-65494176	GM12878	blood:	n/a	n/a
21	SUZ12	chr8:65492486-65494683	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:65493319-65493594	GM12892	blood:	n/a	n/a
23	CTCF	chr8:65493492-65493622	GM10248	blood:	n/a	n/a
24	CTCF	chr8:65493440-65493590	GM12867	blood:	n/a	n/a
25	CTCF	chr8:65493460-65493610	GM12878	blood:	n/a	n/a
26	TBP	chr8:65493341-65493745	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr8:65490848-65494958	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr8:65491503-65495107	SK-N-MC	brain:	n/a	n/a
29	CTCF	chr8:65493489-65493588	GM19239	blood:	n/a	n/a
30	POLR2A	chr8:65491730-65494687	GM12892	blood:	n/a	n/a
31	CTCF	chr8:65493465-65493581	GM12891	blood:	n/a	n/a
32	CTCF	chr8:65493440-65493590	GM06990	blood:	n/a	n/a
33	POLR2A	chr8:65491561-65494758	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:65491737-65494740	GM18505	blood:	n/a	n/a
35	CTBP2	chr8:65492814-65494720	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr8:65490914-65493622	H1-neurons	neurons:	n/a	n/a
37	MAX	chr8:65493303-65494591	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr8:65493450-65493611	GM12892	blood:	n/a	n/a
39	MAX	chr8:65493455-65494365	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF143	chr8:65493409-65494453	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr8:65493406-65493604	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr8:65493392-65493718	GM12878	blood:	n/a	n/a
43	CHD1	chr8:65491785-65495139	GM12878	blood:	n/a	chr8:65492726-65492733
44	CTCF	chr8:65493398-65493753	GM12878	blood:	n/a	n/a
45	CTCF	chr8:65493400-65493550	GM12871	blood:	n/a	n/a
46	POLR2A	chr8:65493300-65495011	GM12891	blood:	n/a	n/a
47	POLR2A	chr8:65489580-65494694	GM19193	blood:	n/a	n/a
48	CTCF	chr8:65493500-65493650	GM12866	blood:	n/a	n/a
49	ELF1	chr8:65493260-65493737	GM12878	blood:	n/a	n/a
50	RAD21	chr8:65493437-65493643	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254102	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34522585	0.87[AMR][1000 genomes]
rs62519822	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519827	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519832	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519833	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519839	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519841	0.87[AMR][1000 genomes]
rs62519842	0.87[AMR][1000 genomes]
rs62519845	0.87[AMR][1000 genomes]
rs62519847	0.87[AMR][1000 genomes]
rs62521080	0.87[AMR][1000 genomes]
rs9650210	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:95 , 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	chr8:65492400-65493600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:65492400-65493800	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr8:65492400-65494200	Active TSS	Brain Substantia Nigra	brain
12	chr8:65492400-65494200	Bivalent/Poised TSS	A549	lung
13	chr8:65492400-65494200	Active TSS	GM12878-XiMat	blood
14	chr8:65492400-65494400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
15	chr8:65492600-65493600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:65492600-65493600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr8:65492600-65493600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
18	chr8:65492600-65493600	Active TSS	Aorta	Aorta
19	chr8:65492600-65493800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:65492600-65493800	Bivalent/Poised TSS	Esophagus	oesophagus
21	chr8:65492600-65494000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
22	chr8:65492600-65494200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:65492600-65494200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:65492600-65494200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:65492600-65494200	Active TSS	Rectal Smooth Muscle	rectum
26	chr8:65492600-65494600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:65492600-65494600	Bivalent Enhancer	Placenta	Placenta
28	chr8:65492600-65494600	Bivalent/Poised TSS	Left Ventricle	heart
29	chr8:65492600-65494600	Bivalent/Poised TSS	Ovary	ovary
30	chr8:65492800-65493600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:65492800-65493800	Active TSS	Primary T cells from cord blood	blood
32	chr8:65492800-65493800	Active TSS	Brain Anterior Caudate	brain
33	chr8:65492800-65494000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
34	chr8:65492800-65494000	Bivalent/Poised TSS	NH-A	brain
35	chr8:65492800-65494200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:65492800-65494400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:65492800-65494600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:65492800-65494600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr8:65492800-65494600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:65492800-65494600	Bivalent/Poised TSS	NHEK	skin
41	chr8:65492800-65494800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:65492800-65495000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:65493000-65493600	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
44	chr8:65493000-65493600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
45	chr8:65493000-65493600	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr8:65493000-65493600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
47	chr8:65493000-65493600	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr8:65493000-65493800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:65493000-65494000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:65493000-65494000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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