Variant report

Variant	rs73327180
Chromosome Location	chr17:45283141-45283142
allele	C/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	RELA	chr17:45282073-45283533	GM18951	blood:	n/a	n/a
2	PML	chr17:45281983-45283412	GM12878	blood:	n/a	chr17:45283093-45283101
3	MAX	chr17:45282867-45283536	HCT-116	colon:	n/a	n/a
4	PAX5	chr17:45282105-45283355	GM12878	blood:	n/a	n/a
5	RELA	chr17:45282258-45283249	GM19099	blood:	n/a	n/a
6	SP1	chr17:45282837-45283373	GM12878	blood:	n/a	chr17:45283195-45283209
7	MAX	chr17:45282218-45283330	GM12878	blood:	n/a	n/a
8	BCLAF1	chr17:45282046-45283323	GM12878	blood:	n/a	n/a
9	MAX	chr17:45282835-45283453	ECC-1	luminal epithelium:	n/a	n/a
10	CUX1	chr17:45282076-45283276	GM12878	blood:	n/a	n/a
11	IKZF1	chr17:45281264-45283770	GM12878	blood:	n/a	n/a
12	RUNX3	chr17:45281994-45283361	GM12878	blood:	n/a	n/a
13	PAX5	chr17:45282902-45283213	GM12878	blood:	n/a	n/a
14	RUNX3	chr17:45281174-45283374	GM12878	blood:	n/a	n/a
15	IRF4	chr17:45282637-45283351	GM12878	blood:	n/a	chr17:45283015-45283029
16	ZNF384	chr17:45281264-45283379	GM12878	blood:	n/a	n/a
17	PAX5	chr17:45282946-45283243	GM12892	blood:	n/a	n/a
18	NFIC	chr17:45282706-45283374	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:45281307-45283371	Raji	blood:	n/a	n/a
20	WRNIP1	chr17:45282128-45283356	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:45282027-45283339	GM12892	blood:	n/a	n/a
22	MTA3	chr17:45282009-45283661	GM12878	blood:	n/a	n/a
23	MAX	chr17:45282916-45283341	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr17:45282904-45283196	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	MAX	chr17:45283026-45283318	H1-hESC	embryonic stem cell:	n/a	n/a
30	TBL1XR1	chr17:45282284-45283286	GM12878	blood:	n/a	n/a
31	CHD1	chr17:45282254-45283345	GM12878	blood:	n/a	n/a
32	MXI1	chr17:45282223-45283320	GM12878	blood:	n/a	n/a
33	EBF1	chr17:45282066-45283333	GM12878	blood:	n/a	n/a
34	EP300	chr17:45282132-45283480	GM12878	blood:	n/a	chr17:45282472-45282486 chr17:45283364-45283378 chr17:45282746-45282753 chr17:45282429-45282442
35	MAX	chr17:45282923-45283315	H1-hESC	embryonic stem cell:	n/a	n/a
36	PAX5	chr17:45282782-45283157	GM12891	blood:	n/a	n/a
37	EBF1	chr17:45282113-45283357	GM12878	blood:	n/a	n/a
38	RCOR1	chr17:45282196-45283347	GM12878	blood:	n/a	n/a
39	BRCA1	chr17:45283079-45283214	HepG2	liver:	n/a	n/a
40	PAX5	chr17:45282639-45283246	GM12878	blood:	n/a	n/a
41	MTA3	chr17:45282013-45283352	GM12878	blood:	n/a	n/a
42	BHLHE40	chr17:45282175-45283288	GM12878	blood:	n/a	n/a
43	PAX5	chr17:45282606-45283249	GM12878	blood:	n/a	n/a
44	STAT5A	chr17:45282044-45283302	GM12878	blood:	n/a	n/a
45	STAT5A	chr17:45282771-45283328	GM12878	blood:	n/a	n/a
46	ATF2	chr17:45282100-45283241	GM12878	blood:	n/a	n/a
47	NFATC1	chr17:45281996-45283201	GM12878	blood:	n/a	n/a
48	MAX	chr17:45282863-45283492	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr17:45282089-45283299	GM12878	blood:	n/a	n/a
50	BCLAF1	chr17:45282050-45283342	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45273543..45276290-chr17:45282146..45284491,3	K562	blood:
2	chr17:45273712..45279094-chr17:45279285..45284499,7	K562	blood:
3	chr17:45265425..45269379-chr17:45279788..45284697,6	K562	blood:
4	chr17:45281266..45284177-chr17:45290868..45295313,4	K562	blood:

Variant related genes	Relation type
MYL4	TF binding region
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]
rs73316047	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]
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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45281000-45283200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr17:45281000-45283200	Enhancers	Brain Substantia Nigra	brain
3	chr17:45281000-45283200	Enhancers	Small Intestine	intestine
4	chr17:45281000-45283400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:45281000-45283400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:45281000-45283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:45281000-45283400	Enhancers	NH-A	brain
8	chr17:45281000-45283600	Enhancers	Primary hematopoietic stem cells	blood
9	chr17:45281000-45283600	Enhancers	Placenta	Placenta
10	chr17:45281000-45283600	Flanking Active TSS	GM12878-XiMat	blood
11	chr17:45281000-45283600	Enhancers	HMEC	breast
12	chr17:45281000-45283600	Enhancers	NHLF	lung
13	chr17:45281000-45283800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:45281000-45286000	Enhancers	Fetal Muscle Leg	muscle
15	chr17:45281000-45288400	Enhancers	Fetal Thymus	thymus
16	chr17:45281200-45283200	Enhancers	Brain Cingulate Gyrus	brain
17	chr17:45281200-45283400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:45281200-45283400	Enhancers	Left Ventricle	heart
19	chr17:45281200-45283400	Enhancers	Psoas Muscle	Psoas
20	chr17:45281200-45283400	Enhancers	Right Ventricle	heart
21	chr17:45281200-45283400	Enhancers	Thymus	Thymus
22	chr17:45281200-45283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:45281200-45284400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:45281400-45283200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:45281400-45283600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr17:45281400-45285000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr17:45281600-45283400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45281600-45283400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:45281600-45283400	Enhancers	Colon Smooth Muscle	Colon
30	chr17:45281600-45283600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr17:45281800-45283400	Enhancers	Fetal Stomach	stomach
32	chr17:45281800-45283600	Enhancers	Fetal Brain Male	brain
33	chr17:45282000-45283200	Enhancers	Pancreas	Pancrea
34	chr17:45282000-45283400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr17:45282000-45283600	Enhancers	Fetal Intestine Small	intestine
36	chr17:45282200-45283200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:45282200-45283200	Enhancers	Colonic Mucosa	Colon
38	chr17:45282200-45283200	Enhancers	Fetal Brain Female	brain
39	chr17:45282200-45283200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr17:45282200-45283200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr17:45282200-45283400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:45282200-45283400	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr17:45282200-45283400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr17:45282200-45283400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr17:45282200-45283400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr17:45282200-45283400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr17:45282200-45283400	Enhancers	Fetal Muscle Trunk	muscle
48	chr17:45282200-45283400	Enhancers	Rectal Smooth Muscle	rectum
49	chr17:45282200-45283400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr17:45282200-45283400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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