Variant report

Variant	nsv585198
Chromosome Location	chr20:1239505-1243052
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	IRF1	chr20:1243039-1243364	K562	blood:	n/a	n/a
2	KAP1	chr20:1242863-1243347	K562	blood:	n/a	n/a
3	RFX5	chr20:1241916-1241917	K562	blood:	n/a	n/a
4	TCF7L2	chr20:1241188-1241466	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SNPH	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs805571	chr20:1239505-1239506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200524978	chr20:1239521-1239522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77688057	chr20:1239533-1239534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78436881	chr20:1239542-1239543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201729502	chr20:1239568-1239569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6134383	chr20:1239569-1239570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6134384	chr20:1239615-1239616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372247575	chr20:1239659-1239660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199834996	chr20:1239677-1239678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546130991	chr20:1239702-1239703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369390971	chr20:1239731-1239732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372834790	chr20:1239736-1239737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200549161	chr20:1239752-1239753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375940617	chr20:1239758-1239759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6078369	chr20:1239761-1239762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376182112	chr20:1239785-1239786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6040949	chr20:1239799-1239800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572758301	chr20:1242430-1242431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77932545	chr20:1242437-1242438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79056635	chr20:1242438-1242439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71192000	chr20:1242441-1242442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201306733	chr20:1242442-1242443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75308378	chr20:1242443-1242444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398035179	chr20:1242455-1242456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539681889	chr20:1242574-1242575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77145042	chr20:1242634-1242635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138077246	chr20:1242657-1242658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149098574	chr20:1242697-1242698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189311432	chr20:1242712-1242713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374478466	chr20:1242737-1242738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35124729	chr20:1242757-1242758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56909058	chr20:1242758-1242759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77662457	chr20:1242764-1242765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374811229	chr20:1242766-1242767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397970773	chr20:1242776-1242777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548944069	chr20:1242840-1242841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565709027	chr20:1242854-1242855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368805863	chr20:1242881-1242882	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs368878386	chr20:1242888-1242889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551221792	chr20:1242941-1242942	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372301626	chr20:1243014-1243015	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs6040983	chr20:1243052-1243053	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1239000-1239800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:1242400-1244200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr20:1243000-1245600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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