Variant report

Variant	rs563146237
Chromosome Location	chr8:19674379-19674380
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	chr8:19674261-19675933	MCF-7	breast:	n/a	n/a
2	CREB1	chr8:19674319-19675302	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:19674062-19675954	K562	blood:	n/a	n/a
4	POLR2A	chr8:19674329-19675247	K562	blood:	n/a	n/a
5	YY1	chr8:19674331-19675233	GM12878	blood:	n/a	chr8:19674465-19674479
6	STAT3	chr8:19673907-19675056	MCF10A-Er-Src	breast:	n/a	chr8:19674815-19674826
7	POLR2A	chr8:19674183-19676012	PBDE	blood:	n/a	n/a
8	YY1	chr8:19674325-19675284	K562	blood:	n/a	chr8:19674465-19674479
9	EP300	chr8:19674288-19674976	GM12878	blood:	n/a	chr8:19674448-19674461
10	YY1	chr8:19674336-19675249	K562	blood:	n/a	chr8:19674465-19674479
11	TAF1	chr8:19674307-19675954	ECC-1	luminal epithelium:	n/a	n/a
12	GABPA	chr8:19674339-19675297	K562	blood:	n/a	chr8:19674708-19674722 chr8:19674711-19674722
13	POLR2A	chr8:19674254-19675188	SK-N-SH	brain:	n/a	n/a
14	MAX	chr8:19674335-19675231	A549	lung:	n/a	chr8:19674517-19674527
15	TAF1	chr8:19674334-19674625	SK-N-SH	brain:	n/a	n/a
16	RCOR1	chr8:19674094-19675038	K562	blood:	n/a	n/a
17	MYC	chr8:19674348-19675902	Hela-S3	cervix:	n/a	chr8:19674517-19674527
18	POLR2A	chr8:19674292-19675893	MCF-7	breast:	n/a	n/a
19	TAF1	chr8:19674232-19675882	ECC-1	luminal epithelium:	n/a	n/a
20	TAF1	chr8:19674325-19675292	HepG2	liver:	n/a	n/a
21	JUN	chr8:19674222-19676106	K562	blood:	n/a	chr8:19674876-19674890
22	POLR2A	chr8:19674348-19674604	HepG2	liver:	n/a	n/a
23	MAX	chr8:19674287-19675966	GM12878	blood:	n/a	chr8:19674517-19674527
24	IRF1	chr8:19674064-19675204	K562	blood:	n/a	n/a
25	POLR2A	chr8:19674231-19675966	K562	blood:	n/a	n/a
26	POLR2A	chr8:19674288-19675869	A549	lung:	n/a	n/a
27	POLR2A	chr8:19674113-19675291	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr8:19674330-19674610	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:19674332-19674616	HepG2	liver:	n/a	n/a
30	POLR2A	chr8:19674279-19676054	NB4	blood:	n/a	n/a
31	MYC	chr8:19674221-19676002	K562	blood:	n/a	chr8:19674517-19674527
32	REST	chr8:19674180-19674587	K562	blood:	n/a	n/a
33	POLR2A	chr8:19674129-19675914	GM12878	blood:	n/a	n/a
34	GTF2B	chr8:19674270-19675070	K562	blood:	n/a	n/a
35	PML	chr8:19674225-19676047	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:19674250-19675246	U87	brain:	n/a	n/a
37	GTF2F1	chr8:19674195-19675201	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:19674334-19675299	GM12891	blood:	n/a	n/a
39	CEBPB	chr8:19674137-19674952	IMR90	lung:	n/a	n/a
40	POLR2A	chr8:19674314-19675935	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:19674275-19676005	GM12892	blood:	n/a	n/a
42	MAX	chr8:19674326-19675983	Hela-S3	cervix:	n/a	chr8:19674517-19674527
43	GABPA	chr8:19674311-19674935	Hela-S3	cervix:	n/a	chr8:19674708-19674722 chr8:19674711-19674722
44	MXI1	chr8:19674173-19675985	Hela-S3	cervix:	n/a	n/a
45	ZEB1	chr8:19674299-19674543	GM12878	blood:	n/a	n/a
46	E2F6	chr8:19674353-19675990	K562	blood:	n/a	chr8:19674513-19674525
47	MAX	chr8:19674202-19676166	NB4	blood:	n/a	chr8:19674517-19674527
48	POLR2A	chr8:19674225-19676027	GM12892	blood:	n/a	n/a
49	CHD2	chr8:19674350-19675244	H1-hESC	embryonic stem cell:	n/a	n/a
50	EGR1	chr8:19674279-19675299	HCT-116	colon:	n/a	chr8:19674518-19674528 chr8:19674712-19674721 chr8:19674592-19674599

No.	Distal block	Cell Line	Cell type
1	chr8:19674243..19675884-chr8:19680646..19683864,3	MCF-7	breast:
2	chr5:133304170..133304850-chr8:19674192..19675155,2	HCT-116	colon:
3	chr3:138608050..138608809-chr8:19674191..19674935,2	NB4	blood:
4	chr3:40494258..40495131-chr8:19674253..19674786,2	Hela-S3	cervix:
5	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:
6	chr15:65588319..65589097-chr8:19674080..19674695,2	NB4	blood:
7	chr8:19673492..19676303-chr8:19685537..19688131,3	MCF-7	breast:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000242244	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000104613	Chromatin interaction
ENSG00000113583	Chromatin interaction
ENSG00000223797	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	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	chr8:19673600-19674400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:19673600-19675800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:19673600-19675800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:19673600-19676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:19673800-19674400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr8:19673800-19674400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:19673800-19674400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:19673800-19674400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:19673800-19674400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:19673800-19674400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:19673800-19674400	Flanking Active TSS	Dnd41	blood
12	chr8:19673800-19674400	Flanking Active TSS	Hela-S3	cervix
13	chr8:19673800-19674600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr8:19673800-19674800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:19673800-19675400	Active TSS	HMEC	breast
16	chr8:19673800-19675600	Active TSS	Brain Germinal Matrix	brain
17	chr8:19673800-19675600	Active TSS	Fetal Brain Female	brain
18	chr8:19673800-19675800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:19673800-19675800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr8:19673800-19675800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:19673800-19675800	Active TSS	Rectal Smooth Muscle	rectum
22	chr8:19673800-19675800	Active TSS	HSMM	muscle
23	chr8:19673800-19676000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:19673800-19676000	Active TSS	Colonic Mucosa	Colon
25	chr8:19673800-19676000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:19673800-19676200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:19673800-19676200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:19673800-19676200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:19673800-19676200	Active TSS	Brain Angular Gyrus	brain
30	chr8:19673800-19676200	Active TSS	Fetal Intestine Large	intestine
31	chr8:19673800-19676200	Active TSS	GM12878-XiMat	blood
32	chr8:19673800-19676200	Active TSS	NH-A	brain
33	chr8:19673800-19676400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:19673800-19676800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:19674000-19674400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:19674000-19674400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:19674000-19674400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:19674000-19674400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr8:19674000-19674400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr8:19674000-19674400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:19674000-19674400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:19674000-19674400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr8:19674000-19674400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:19674000-19674400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr8:19674000-19674400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr8:19674000-19674400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr8:19674000-19674400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:19674000-19674400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:19674000-19674400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr8:19674000-19674400	Flanking Active TSS	HUVEC	blood vessel

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