Variant report

Variant	nsv522683
Chromosome Location	chr7:11334427-11335168
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	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11769360	chr7:11334427-11334428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117243224	chr7:11334476-11334477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114662367	chr7:11334484-11334485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542759250	chr7:11334502-11334503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561893058	chr7:11334532-11334533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557336339	chr7:11334542-11334543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574336992	chr7:11334543-11334544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187402749	chr7:11334557-11334558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564354008	chr7:11334571-11334572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143681358	chr7:11334574-11334575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74495872	chr7:11334638-11334639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569676453	chr7:11334645-11334646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73293771	chr7:11334693-11334694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192190940	chr7:11334699-11334700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566227732	chr7:11334713-11334714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543132136	chr7:11334718-11334719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534888934	chr7:11334748-11334749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77840978	chr7:11334758-11334759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78456726	chr7:11334777-11334778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76128593	chr7:11334793-11334794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573989554	chr7:11334802-11334803	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183982980	chr7:11334803-11334804	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs151034298	chr7:11334807-11334808	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528340703	chr7:11334834-11334835	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553176935	chr7:11334860-11334861	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs573317917	chr7:11334865-11334866	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187335561	chr7:11334887-11334888	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573785172	chr7:11334976-11334977	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542895631	chr7:11335001-11335002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140888523	chr7:11335037-11335038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533225729	chr7:11335069-11335070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150154626	chr7:11335070-11335071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6978989	chr7:11335071-11335072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10264071	chr7:11335099-11335100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6978700	chr7:11335132-11335133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs16876813	chr7:11335168-11335169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11331000-11334800	Weak transcription	Liver	Liver
2	chr7:11334200-11335000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:11334800-11335000	ZNF genes & repeats	Liver	Liver
4	chr7:11335000-11352800	Weak transcription	Liver	Liver

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