Variant report

Variant	nsv962233
Chromosome Location	chr17:20048121-20054253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20049401-20049518	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:20048950-20048965	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr17:20050880-20051080	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr17:20052981-20053128	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20049511..20052364-chr17:20057637..20059485,2	K562	blood:
2	chr17:20051458..20053031-chr17:20053497..20055897,2	MCF-7	breast:
3	chr17:20044857..20047131-chr17:20049325..20051781,3	MCF-7	breast:
4	chr17:20044456..20046022-chr17:20048432..20050400,2	K562	blood:
5	chr17:20052584..20055568-chr17:20057202..20059847,3	MCF-7	breast:
6	chr17:20051458..20053031-chr17:20053497..20055897,2	MCF-7	breast:
7	chr17:20051699..20054406-chr17:20055963..20057917,2	K562	blood:

No data

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000128487	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569093709	chr17:20048135-20048136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577526786	chr17:20048160-20048161	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146459046	chr17:20048210-20048211	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71369459	chr17:20048270-20048271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75955750	chr17:20048289-20048290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140876813	chr17:20048326-20048327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8066143	chr17:20048355-20048356	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs551006529	chr17:20048460-20048461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561726685	chr17:20048468-20048469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531860029	chr17:20048518-20048519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188357650	chr17:20048536-20048537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544117245	chr17:20048584-20048585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564012722	chr17:20048586-20048587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533157693	chr17:20048628-20048629	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571453960	chr17:20048668-20048669	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143803157	chr17:20048669-20048670	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566605485	chr17:20048680-20048681	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146835253	chr17:20048716-20048717	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548989604	chr17:20048721-20048722	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8081593	chr17:20048722-20048723	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560931738	chr17:20048744-20048745	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140659196	chr17:20048762-20048763	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192587480	chr17:20048775-20048776	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546468982	chr17:20048854-20048855	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143833783	chr17:20048861-20048862	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148162582	chr17:20048876-20048877	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140943582	chr17:20048912-20048913	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72830158	chr17:20048913-20048914	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112156574	chr17:20048944-20048945	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74906906	chr17:20049019-20049020	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139142055	chr17:20049021-20049022	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143065172	chr17:20049040-20049041	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113151479	chr17:20049063-20049064	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544156067	chr17:20049085-20049086	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183653883	chr17:20049098-20049099	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577854006	chr17:20049161-20049162	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187967887	chr17:20049191-20049192	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560065209	chr17:20049214-20049215	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs147059149	chr17:20049215-20049216	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549113405	chr17:20049239-20049240	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs34712254	chr17:20049308-20049309	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs138871944	chr17:20049327-20049328	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115973985	chr17:20049330-20049331	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4925088	chr17:20049344-20049345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs182031279	chr17:20049347-20049348	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547206837	chr17:20049362-20049363	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538070807	chr17:20049443-20049444	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536020287	chr17:20049484-20049485	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537550491	chr17:20049498-20049499	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555446150	chr17:20049532-20049533	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Urothelial carcinoma	21177765	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
Colorectal cancer	16774939	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
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20026200-20049800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:20031600-20052400	Weak transcription	Brain Anterior Caudate	brain
4	chr17:20031800-20052600	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:20031800-20056400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:20032000-20058600	Weak transcription	A549	lung
7	chr17:20034800-20049400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:20034800-20054400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:20035000-20048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:20040200-20048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:20040600-20052400	Weak transcription	Aorta	Aorta
12	chr17:20042400-20049800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:20042800-20058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:20044600-20049000	Weak transcription	Spleen	Spleen
15	chr17:20044800-20048600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:20045200-20048600	Weak transcription	Ovary	ovary
17	chr17:20045400-20058400	Weak transcription	K562	blood
18	chr17:20047000-20049200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:20047400-20058400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:20048000-20049200	Enhancers	Duodenum Mucosa	Duodenum
21	chr17:20048400-20052400	Weak transcription	Brain Substantia Nigra	brain
22	chr17:20048600-20048800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:20048600-20048800	Enhancers	Ovary	ovary
24	chr17:20048600-20049800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:20048600-20049800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:20048800-20052600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:20049000-20049200	Enhancers	Spleen	Spleen
28	chr17:20049400-20049600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr17:20049600-20049800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr17:20049800-20050600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr17:20049800-20052200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr17:20049800-20052200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:20049800-20052400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:20049800-20058000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr17:20050600-20055000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr17:20052000-20052600	Weak transcription	Adipose Nuclei	Adipose
37	chr17:20052200-20053200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:20052200-20053400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr17:20052400-20052600	Weak transcription	Brain Angular Gyrus	brain
40	chr17:20052400-20052800	Enhancers	Aorta	Aorta
41	chr17:20052400-20053000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:20052400-20053000	Enhancers	Brain Anterior Caudate	brain
43	chr17:20052400-20053000	Enhancers	Brain Substantia Nigra	brain
44	chr17:20052600-20052800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:20052600-20052800	Enhancers	Adipose Nuclei	Adipose
46	chr17:20052600-20052800	Enhancers	Brain Angular Gyrus	brain
47	chr17:20052600-20053000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:20052600-20053000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:20052600-20053000	Enhancers	Brain Hippocampus Middle	brain
50	chr17:20052600-20053200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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