Variant report

Variant	esv2389300
Chromosome Location	chr17:46622349-46622350
allele	n/a
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	ARID3A	chr17:46622014-46622675	K562	blood:	n/a	n/a
2	BHLHE40	chr17:46622342-46622775	K562	blood:	n/a	n/a
3	CHD1	chr17:46618264-46622953	IMR90	lung:	n/a	chr17:46619790-46619800
4	CHD2	chr17:46622231-46622697	K562	blood:	n/a	n/a
5	EP300	chr17:46622069-46622637	K562	blood:	n/a	chr17:46622398-46622412
6	GTF2B	chr17:46622081-46622353	K562	blood:	n/a	n/a
7	HEY1	chr17:46620377-46622357	K562	blood:	n/a	n/a
8	IRF1	chr17:46621405-46622745	K562	blood:	n/a	n/a
9	MAX	chr17:46621695-46622363	K562	blood:	n/a	chr17:46622336-46622346
10	MAZ	chr17:46620727-46622534	K562	blood:	n/a	chr17:46621225-46621235 chr17:46622336-46622346
11	MAZ	chr17:46620480-46623291	IMR90	lung:	n/a	chr17:46621225-46621235 chr17:46622336-46622346
12	MYC	chr17:46620896-46622352	K562	blood:	n/a	chr17:46621225-46621235 chr17:46622336-46622346
13	NFYB	chr17:46622102-46622758	K562	blood:	n/a	n/a
14	PBX3	chr17:46621974-46622413	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr17:46620299-46626078	K562	blood:	n/a	n/a
16	POLR2A	chr17:46618296-46623366	K562	blood:	n/a	n/a
17	POLR2A	chr17:46621420-46622724	IMR90	lung:	n/a	n/a
18	POLR2A	chr17:46618007-46622747	K562	blood:	n/a	n/a
19	POLR2A	chr17:46620220-46622735	K562	blood:	n/a	n/a
20	POLR2A	chr17:46620403-46622760	K562	blood:	n/a	n/a
21	POLR2A	chr17:46620117-46628421	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr17:46621645-46622609	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr17:46621367-46622732	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr17:46620425-46622704	K562	blood:	n/a	n/a
25	POLR2A	chr17:46621078-46622909	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr17:46620174-46622368	K562	blood:	n/a	n/a
27	POLR2A	chr17:46618230-46622806	U87	brain:	n/a	n/a
28	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr17:46620079-46622806	U87	brain:	n/a	n/a
30	POLR2A	chr17:46622343-46622415	K562	blood:	n/a	n/a
31	TAF1	chr17:46620397-46622420	K562	blood:	n/a	n/a
32	TAF1	chr17:46620173-46622395	K562	blood:	n/a	n/a
33	TBL1XR1	chr17:46622046-46622429	K562	blood:	n/a	n/a
34	TBL1XR1	chr17:46621397-46622684	K562	blood:	n/a	n/a
35	TBP	chr17:46620883-46622597	K562	blood:	n/a	n/a
36	USF1	chr17:46622292-46622624	H1-hESC	embryonic stem cell:	n/a	n/a
37	USF1	chr17:46622338-46622684	K562	blood:	n/a	n/a
38	USF1	chr17:46622306-46622694	K562	blood:	n/a	n/a
39	USF1	chr17:46622306-46622668	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZBTB7A	chr17:46621724-46622566	K562	blood:	n/a	n/a
41	ZBTB7A	chr17:46621761-46622451	K562	blood:	n/a	n/a
42	ZMIZ1	chr17:46621991-46622555	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46618868..46624573-chr17:46700689..46705978,10	K562	blood:
2	chr17:46621559..46624647-chr17:46668034..46670671,3	K562	blood:

Variant related genes	Relation type
HOXB-AS3	TF binding region
HOXB-AS1	TF binding region
HOXB2	TF binding region
ENSG00000170689	chromatin interactions
ENSG00000233101	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 116 )

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	rs9899351	chr17:46622349-46622350	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46618200-46622400	Active TSS	Rectal Smooth Muscle	rectum
2	chr17:46618400-46622400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
3	chr17:46618400-46622400	Bivalent/Poised TSS	Thymus	Thymus
4	chr17:46618400-46622600	Active TSS	Right Atrium	heart
5	chr17:46618400-46622600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr17:46618600-46622400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr17:46618600-46622400	Active TSS	Aorta	Aorta
8	chr17:46618600-46622400	Active TSS	Placenta Amnion	Placenta Amnion
9	chr17:46618600-46622600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr17:46618600-46622600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:46618600-46622600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:46618600-46622600	Bivalent/Poised TSS	Fetal Lung	lung
13	chr17:46618800-46622600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr17:46618800-46622600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr17:46618800-46622600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr17:46618800-46622600	Active TSS	Fetal Kidney	kidney
17	chr17:46618800-46622600	Active TSS	K562	blood
18	chr17:46618800-46622600	Active TSS	NHDF-Ad	bronchial
19	chr17:46618800-46623000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:46618800-46625600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:46619000-46622400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:46619000-46622400	Active TSS	Primary T cells from cord blood	blood
23	chr17:46619000-46622400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr17:46619000-46622400	Active TSS	Stomach Smooth Muscle	stomach
25	chr17:46619000-46622600	Active TSS	HMEC	breast
26	chr17:46619000-46622600	Active TSS	HSMM	muscle
27	chr17:46619000-46622600	Active TSS	HSMMtube	muscle
28	chr17:46619000-46622600	Bivalent/Poised TSS	Osteobl	bone
29	chr17:46619800-46622600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:46620000-46622400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:46620000-46622400	Active TSS	Fetal Muscle Trunk	muscle
32	chr17:46620000-46622400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
33	chr17:46620000-46622400	Active TSS	HUVEC	blood vessel
34	chr17:46620200-46622400	Bivalent Enhancer	Fetal Brain Male	brain
35	chr17:46620600-46622400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr17:46620600-46622400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr17:46620600-46622400	Active TSS	NH-A	brain
38	chr17:46620600-46622400	Bivalent/Poised TSS	NHEK	skin
39	chr17:46620600-46622600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr17:46620600-46622600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:46620800-46622400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:46620800-46622600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
43	chr17:46620800-46622600	Active TSS	Colonic Mucosa	Colon
44	chr17:46621000-46622400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:46621000-46622400	Active TSS	Colon Smooth Muscle	Colon
46	chr17:46621000-46622400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr17:46621000-46622600	Active TSS	Muscle Satellite Cultured Cells	--
48	chr17:46621200-46622400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:46621200-46622400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:46621200-46622400	Active TSS	Primary hematopoietic stem cells	blood

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