Variant report

Variant	esv1951499
Chromosome Location	chr17:20902071-20902073
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	BCL3	chr17:20900503-20902569	A549	lung:	n/a	n/a
2	BCL3	chr17:20901646-20902196	GM12878	blood:	n/a	n/a
3	BCL3	chr17:20900407-20902753	A549	lung:	n/a	n/a
4	BCLAF1	chr17:20901800-20902496	GM12878	blood:	n/a	n/a
5	BCLAF1	chr17:20901700-20902142	GM12878	blood:	n/a	n/a
6	CHD2	chr17:20901958-20902159	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F4	chr17:20901991-20902087	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr17:20901982-20902349	GM12878	blood:	n/a	chr17:20902155-20902166
9	FOSL2	chr17:20899864-20904071	HepG2	liver:	n/a	chr17:20902795-20902805 chr17:20902795-20902805 chr17:20902795-20902805 chr17:20902204-20902216
10	HCFC1	chr17:20901944-20902096	K562	blood:	n/a	n/a
11	MAZ	chr17:20901972-20902085	GM12878	blood:	n/a	n/a
12	MTA3	chr17:20900675-20902913	GM12878	blood:	n/a	n/a
13	NFATC1	chr17:20900949-20902703	GM12878	blood:	n/a	chr17:20902246-20902259
14	NFATC1	chr17:20900906-20902881	GM12878	blood:	n/a	chr17:20902246-20902259
15	PBX3	chr17:20901107-20902097	SK-N-SH	brain:	n/a	n/a
16	PML	chr17:20901486-20902703	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:20900938-20902736	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr17:20900652-20903289	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr17:20899537-20902909	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr17:20900921-20902164	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:20901296-20902890	GM12892	blood:	n/a	n/a
22	POLR2A	chr17:20899278-20902883	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:20900309-20902722	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr17:20901643-20902855	HepG2	liver:	n/a	n/a
25	POLR2A	chr17:20899351-20909849	K562	blood:	n/a	n/a
26	POLR2A	chr17:20901226-20902882	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr17:20900479-20904139	GM12878	blood:	n/a	n/a
28	POLR2A	chr17:20900348-20902998	K562	blood:	n/a	n/a
29	POLR2A	chr17:20901480-20902748	HepG2	liver:	n/a	n/a
30	POLR2A	chr17:20901593-20902878	GM12878	blood:	n/a	n/a
31	POLR2A	chr17:20900994-20903050	HepG2	liver:	n/a	n/a
32	POLR2A	chr17:20900189-20902617	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr17:20900955-20902129	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:20901200-20903533	GM12891	blood:	n/a	n/a
35	POLR2A	chr17:20901121-20902989	HCT-116	colon:	n/a	n/a
36	POLR2A	chr17:20900974-20902342	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr17:20900597-20902264	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr17:20900462-20902080	HepG2	liver:	n/a	n/a
39	POLR2A	chr17:20900596-20902478	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr17:20901240-20903044	GM12891	blood:	n/a	n/a
41	POLR2A	chr17:20901272-20902752	HCT-116	colon:	n/a	n/a
42	POLR2A	chr17:20900814-20902988	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:20901681-20902164	GM12891	blood:	n/a	n/a
44	POLR2A	chr17:20901146-20903014	GM12892	blood:	n/a	n/a
45	POLR2A	chr17:20899206-20903031	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr17:20900718-20903554	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr17:20900939-20902937	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr17:20901229-20902986	K562	blood:	n/a	n/a
49	POLR2A	chr17:20901019-20902125	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr17:20900523-20902900	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20899990..20902443-chr17:20946128..20948088,2	K562	blood:
2	chr17:20901201..20904612-chr17:20905901..20908917,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263986	TF binding region
ENSG00000124422	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111354420	chr17:20902071-20902072	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs80280903	chr17:20902072-20902073	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:149)

Disease	PMID	Source
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Autism	20808228	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20896400-20902800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:20896600-20906800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:20896800-20902200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:20896800-20902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:20896800-20902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:20896800-20902200	Weak transcription	Fetal Thymus	thymus
7	chr17:20896800-20902400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:20896800-20902600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:20896800-20902600	Weak transcription	Colonic Mucosa	Colon
10	chr17:20896800-20902600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:20896800-20902600	Weak transcription	NHEK	skin
12	chr17:20896800-20904200	Weak transcription	Primary T cells from cord blood	blood
13	chr17:20896800-20904800	Weak transcription	Fetal Kidney	kidney
14	chr17:20896800-20905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:20897000-20902400	Weak transcription	HMEC	breast
16	chr17:20897000-20902600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:20897000-20902600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:20897000-20902600	Weak transcription	Pancreas	Pancrea
19	chr17:20897000-20902800	Weak transcription	HepG2	liver
20	chr17:20897000-20903400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:20897000-20905200	Weak transcription	Fetal Brain Male	brain
22	chr17:20897200-20904600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:20897600-20902400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:20897600-20902400	Weak transcription	NH-A	brain
25	chr17:20897800-20902200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:20897800-20902400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:20898000-20902600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:20898000-20905000	Weak transcription	Hela-S3	cervix
29	chr17:20898200-20902200	Weak transcription	Placenta	Placenta
30	chr17:20898400-20902800	Weak transcription	Stomach Mucosa	stomach
31	chr17:20899200-20908600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:20899600-20902600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:20899600-20902600	Enhancers	Brain Hippocampus Middle	brain
34	chr17:20899800-20902400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr17:20899800-20904800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:20900000-20903200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:20900000-20905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:20900200-20902400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr17:20900200-20902600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:20900200-20904800	Enhancers	Brain Substantia Nigra	brain
41	chr17:20900200-20924000	Strong transcription	Fetal Stomach	stomach
42	chr17:20900400-20903200	Enhancers	Brain Anterior Caudate	brain
43	chr17:20900400-20904800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr17:20900400-20905200	Enhancers	Brain Angular Gyrus	brain
45	chr17:20900400-20906000	Genic enhancers	Stomach Smooth Muscle	stomach
46	chr17:20900600-20902600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:20900600-20902600	Weak transcription	Gastric	stomach
48	chr17:20900600-20903200	Enhancers	Left Ventricle	heart
49	chr17:20900600-20903400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr17:20900600-20905600	Genic enhancers	Fetal Muscle Leg	muscle

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