Variant report

Variant	rs73316047
Chromosome Location	chr17:45282289-45282290
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	RELA	chr17:45282073-45283533	GM18951	blood:	n/a	n/a
2	PML	chr17:45281983-45283412	GM12878	blood:	n/a	chr17:45283093-45283101
3	ZNF263	chr17:45282231-45282633	HEK293-T-REx	kidney:	n/a	chr17:45282422-45282431 chr17:45282425-45282434 chr17:45282420-45282441
4	PAX5	chr17:45282105-45283355	GM12878	blood:	n/a	n/a
5	RELA	chr17:45282258-45283249	GM19099	blood:	n/a	n/a
6	MAX	chr17:45282218-45283330	GM12878	blood:	n/a	n/a
7	RCOR1	chr17:45282289-45282476	K562	blood:	n/a	n/a
8	BCLAF1	chr17:45282046-45283323	GM12878	blood:	n/a	n/a
9	ZNF384	chr17:45281857-45282545	K562	blood:	n/a	n/a
10	CUX1	chr17:45282076-45283276	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:45282264-45282552	GM12878	blood:	n/a	n/a
12	ATF1	chr17:45281975-45282613	K562	blood:	n/a	n/a
13	POLR2A	chr17:45282022-45282644	GM12878	blood:	n/a	n/a
14	IKZF1	chr17:45281264-45283770	GM12878	blood:	n/a	n/a
15	RUNX3	chr17:45281994-45283361	GM12878	blood:	n/a	n/a
16	RUNX3	chr17:45281174-45283374	GM12878	blood:	n/a	n/a
17	TBP	chr17:45282120-45282621	GM12878	blood:	n/a	n/a
18	JUND	chr17:45282032-45282631	K562	blood:	n/a	n/a
19	ZNF384	chr17:45281264-45283379	GM12878	blood:	n/a	n/a
20	POLR2A	chr17:45281307-45283371	Raji	blood:	n/a	n/a
21	WRNIP1	chr17:45282128-45283356	GM12878	blood:	n/a	n/a
22	RCOR1	chr17:45282215-45282638	K562	blood:	n/a	n/a
23	POLR2A	chr17:45282027-45283339	GM12892	blood:	n/a	n/a
24	MTA3	chr17:45282009-45283661	GM12878	blood:	n/a	n/a
25	ZNF143	chr17:45282157-45283263	GM12878	blood:	n/a	chr17:45282689-45282698
26	POLR2A	chr17:45282142-45283308	GM12892	blood:	n/a	n/a
27	NFIC	chr17:45282004-45283413	GM12878	blood:	n/a	n/a
28	EP300	chr17:45281387-45283365	GM12878	blood:	n/a	chr17:45282472-45282486 chr17:45282746-45282753 chr17:45282429-45282442
29	SPI1	chr17:45282230-45282618	GM12878	blood:	n/a	chr17:45282423-45282436
30	TBL1XR1	chr17:45282284-45283286	GM12878	blood:	n/a	n/a
31	POLR2A	chr17:45282171-45282547	GM12878	blood:	n/a	n/a
32	CEBPB	chr17:45282178-45282566	K562	blood:	n/a	n/a
33	CHD1	chr17:45282254-45283345	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:45282143-45282623	GM12892	blood:	n/a	n/a
35	MAZ	chr17:45282286-45282560	K562	blood:	n/a	n/a
36	MXI1	chr17:45282223-45283320	GM12878	blood:	n/a	n/a
37	EBF1	chr17:45282066-45283333	GM12878	blood:	n/a	n/a
38	EP300	chr17:45282132-45283480	GM12878	blood:	n/a	chr17:45282472-45282486 chr17:45283364-45283378 chr17:45282746-45282753 chr17:45282429-45282442
39	EBF1	chr17:45282113-45283357	GM12878	blood:	n/a	n/a
40	YY1	chr17:45282091-45282780	GM12878	blood:	n/a	n/a
41	MAFF	chr17:45282006-45282330	K562	blood:	n/a	n/a
42	POLR2A	chr17:45282203-45282683	GM12878	blood:	n/a	n/a
43	RCOR1	chr17:45282196-45283347	GM12878	blood:	n/a	n/a
44	MTA3	chr17:45282013-45283352	GM12878	blood:	n/a	n/a
45	HEY1	chr17:45282242-45282486	K562	blood:	n/a	n/a
46	BCL3	chr17:45282206-45282666	GM12878	blood:	n/a	n/a
47	BHLHE40	chr17:45282175-45283288	GM12878	blood:	n/a	n/a
48	MAFK	chr17:45282029-45282552	K562	blood:	n/a	n/a
49	STAT5A	chr17:45282044-45283302	GM12878	blood:	n/a	n/a
50	ATF2	chr17:45282100-45283241	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45273543..45276290-chr17:45282146..45284491,3	K562	blood:
2	chr17:45236830..45238763-chr17:45281000..45283045,2	K562	blood:
3	chr17:45273712..45279094-chr17:45279285..45284499,7	K562	blood:
4	chr17:45265425..45269379-chr17:45279788..45284697,6	K562	blood:
5	chr17:45265176..45269287-chr17:45280012..45282931,4	K562	blood:
6	chr17:45281266..45284177-chr17:45290868..45295313,4	K562	blood:

Variant related genes	Relation type
MYL4	TF binding region
ENSG00000239291	Chromatin interaction
ENSG00000198336	Chromatin interaction
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11570469	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11869037	1.00[AFR][1000 genomes]
rs57661742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61255112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6504778	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7217466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226301	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316051	1.00[AFR][1000 genomes]
rs73317687	1.00[AMR][1000 genomes]
rs73319518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078960	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45280200-45282400	Enhancers	Primary B cells from peripheral blood	blood
2	chr17:45280400-45282600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:45280600-45282800	Enhancers	Dnd41	blood
4	chr17:45281000-45282400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr17:45281000-45282400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:45281000-45282600	Enhancers	Primary T cells from cord blood	blood
7	chr17:45281000-45282600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr17:45281000-45282600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr17:45281000-45283200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr17:45281000-45283200	Enhancers	Brain Substantia Nigra	brain
11	chr17:45281000-45283200	Enhancers	Small Intestine	intestine
12	chr17:45281000-45283400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:45281000-45283400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:45281000-45283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:45281000-45283400	Enhancers	NH-A	brain
16	chr17:45281000-45283600	Enhancers	Primary hematopoietic stem cells	blood
17	chr17:45281000-45283600	Enhancers	Placenta	Placenta
18	chr17:45281000-45283600	Flanking Active TSS	GM12878-XiMat	blood
19	chr17:45281000-45283600	Enhancers	HMEC	breast
20	chr17:45281000-45283600	Enhancers	NHLF	lung
21	chr17:45281000-45283800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:45281000-45286000	Enhancers	Fetal Muscle Leg	muscle
23	chr17:45281000-45288400	Enhancers	Fetal Thymus	thymus
24	chr17:45281200-45282400	Enhancers	Brain Angular Gyrus	brain
25	chr17:45281200-45282600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:45281200-45282800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:45281200-45282800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr17:45281200-45282800	Enhancers	Right Atrium	heart
29	chr17:45281200-45282800	Enhancers	Spleen	Spleen
30	chr17:45281200-45283200	Enhancers	Brain Cingulate Gyrus	brain
31	chr17:45281200-45283400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:45281200-45283400	Enhancers	Left Ventricle	heart
33	chr17:45281200-45283400	Enhancers	Psoas Muscle	Psoas
34	chr17:45281200-45283400	Enhancers	Right Ventricle	heart
35	chr17:45281200-45283400	Enhancers	Thymus	Thymus
36	chr17:45281200-45283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:45281200-45284400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:45281400-45282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:45281400-45282800	Enhancers	Aorta	Aorta
40	chr17:45281400-45283000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:45281400-45283200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:45281400-45283600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr17:45281400-45285000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr17:45281600-45282600	Weak transcription	Esophagus	oesophagus
45	chr17:45281600-45282800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr17:45281600-45283400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:45281600-45283400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:45281600-45283400	Enhancers	Colon Smooth Muscle	Colon
49	chr17:45281600-45283600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr17:45281800-45283000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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