Variant report

Variant	nsv606275
Chromosome Location	chr7:13733530-13742326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13739444..13741121-chr7:14029651..14032169,2	K562	blood:

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182684914	chr7:13735276-13735277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377681823	chr7:13735278-13735279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12671095	chr7:13735279-13735280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529450388	chr7:13735289-13735290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548615236	chr7:13735294-13735295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2163694	chr7:13735305-13735306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142654485	chr7:13735308-13735309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200826195	chr7:13735321-13735322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386710539	chr7:13735323-13735324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201992792	chr7:13735338-13735339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151004733	chr7:13735392-13735393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558444631	chr7:13735397-13735398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112480325	chr7:13735411-13735412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373526865	chr7:13735445-13735446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34706145	chr7:13735501-13735502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571822453	chr7:13735507-13735508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77003968	chr7:13735536-13735537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374865176	chr7:13735608-13735609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573891559	chr7:13735691-13735692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187013203	chr7:13735740-13735741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2568651	chr7:13735750-13735751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572810284	chr7:13735768-13735769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572704340	chr7:13737482-13737483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576920732	chr7:13737511-13737512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372105223	chr7:13737518-13737519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565344313	chr7:13737527-13737528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79672093	chr7:13737570-13737571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556968242	chr7:13737583-13737584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550589434	chr7:13737617-13737618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377722440	chr7:13737627-13737628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139330713	chr7:13737711-13737712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143354112	chr7:13737712-13737713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181141371	chr7:13737718-13737719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67651453	chr7:13737730-13737731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184425579	chr7:13737809-13737810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114820308	chr7:13737810-13737811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568946744	chr7:13737817-13737818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537920791	chr7:13737830-13737831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376187223	chr7:13737844-13737845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34393066	chr7:13737891-13737892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574478919	chr7:13737990-13737991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147139305	chr7:13738009-13738010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113726869	chr7:13738026-13738027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189258836	chr7:13738071-13738072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569836356	chr7:13738096-13738097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59148977	chr7:13738130-13738131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138663540	chr7:13738136-13738137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2848844	chr7:13738141-13738142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544289079	chr7:13738195-13738196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560993313	chr7:13738196-13738197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13735200-13735800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13737400-13741800	Weak transcription	Fetal Brain Male	brain
3	chr7:13741800-13742000	Enhancers	Fetal Brain Male	brain
4	chr7:13742200-13742400	Enhancers	HUES64 Cell Line	embryonic stem cell

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