Variant report

Variant	rs58065180
Chromosome Location	chr8:19676427-19676428
allele	G/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	IRF1	chr8:19675401-19677333	K562	blood:	n/a	chr8:19676146-19676159 chr8:19676149-19676160 chr8:19676148-19676159 chr8:19676147-19676159 chr8:19676144-19676158 chr8:19676148-19676162 chr8:19676146-19676160 chr8:19676148-19676158
2	RCOR1	chr8:19676242-19676537	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr8:19673981-19676882	IMR90	lung:	n/a	n/a
4	SETDB1	chr8:19675788-19676450	U2OS	brain:	n/a	n/a
5	RFX5	chr8:19673569-19676511	SK-N-SH	brain:	n/a	chr8:19675658-19675673
6	KAP1	chr8:19675857-19677065	K562	blood:	n/a	n/a
7	POLR2A	chr8:19674362-19680077	K562	blood:	n/a	n/a
8	POLR2A	chr8:19674276-19676517	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:19675302..19676840-chr8:19775032..19777867,2	K562	blood:
2	chr8:19675514..19677492-chr8:19691174..19693357,2	MCF-7	breast:
3	chr8:19674757..19677268-chr8:19687110..19688906,2	K562	blood:
4	chr16:47497589..47499344-chr8:19675035..19676685,2	K562	blood:
5	chr8:19169628..19172105-chr8:19676058..19678927,2	MCF-7	breast:
6	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000129636	Chromatin interaction
ENSG00000104611	Chromatin interaction
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs259	1.00[AMR][1000 genomes]
rs55830938	1.00[AMR][1000 genomes]
rs56193920	1.00[AMR][1000 genomes]
rs57345602	1.00[AMR][1000 genomes]
rs59184895	1.00[AMR][1000 genomes]
rs61171174	1.00[AMR][1000 genomes]
rs7005541	1.00[AMR][1000 genomes]
rs73667439	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667442	1.00[AMR][1000 genomes]
rs73667448	1.00[AMR][1000 genomes]
rs73667450	1.00[AMR][1000 genomes]
rs73667452	1.00[AMR][1000 genomes]
rs73667456	1.00[AMR][1000 genomes]
rs73667457	1.00[AMR][1000 genomes]
rs73667458	1.00[AMR][1000 genomes]
rs73667460	1.00[AMR][1000 genomes]
rs73667464	1.00[AMR][1000 genomes]
rs73667466	1.00[AMR][1000 genomes]
rs73667467	1.00[AMR][1000 genomes]
rs73667471	1.00[AMR][1000 genomes]

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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3425950	chr8:19673522-19676520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19673800-19676800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:19674000-19676600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:19674000-19676600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr8:19675600-19676800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr8:19675800-19676600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr8:19676000-19676600	Enhancers	Brain Germinal Matrix	brain
7	chr8:19676000-19676600	Enhancers	Fetal Heart	heart
8	chr8:19676000-19676800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:19676000-19676800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:19676000-19677000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:19676000-19677000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:19676000-19677000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:19676000-19677000	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:19676000-19677200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:19676000-19677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:19676000-19677200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:19676000-19677400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:19676000-19677600	Weak transcription	Left Ventricle	heart
19	chr8:19676000-19677600	Weak transcription	Lung	lung
20	chr8:19676000-19677600	Weak transcription	Ovary	ovary
21	chr8:19676000-19677600	Weak transcription	Psoas Muscle	Psoas
22	chr8:19676000-19677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:19676000-19677800	Weak transcription	Colonic Mucosa	Colon
24	chr8:19676000-19678000	Weak transcription	Spleen	Spleen
25	chr8:19676000-19678400	Weak transcription	Thymus	Thymus
26	chr8:19676000-19678600	Weak transcription	Esophagus	oesophagus
27	chr8:19676000-19678800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:19676000-19678800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:19676000-19678800	Weak transcription	Aorta	Aorta
30	chr8:19676000-19678800	Weak transcription	Gastric	stomach
31	chr8:19676000-19678800	Weak transcription	Pancreas	Pancrea
32	chr8:19676000-19681000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:19676000-19683800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:19676000-19689600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:19676000-19699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:19676200-19676600	Enhancers	Primary B cells from cord blood	blood
38	chr8:19676200-19676600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
39	chr8:19676200-19676600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr8:19676200-19676600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:19676200-19676600	Flanking Active TSS	HepG2	liver
42	chr8:19676200-19676800	Enhancers	Brain Angular Gyrus	brain
43	chr8:19676200-19676800	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:19676200-19676800	Enhancers	Fetal Intestine Large	intestine
45	chr8:19676200-19676800	Transcr. at gene 5' and 3'	A549	lung
46	chr8:19676200-19676800	Transcr. at gene 5' and 3'	HMEC	breast
47	chr8:19676200-19676800	Transcr. at gene 5' and 3'	K562	blood
48	chr8:19676200-19677000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:19676200-19677000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:19676200-19677000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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