Variant report

Variant	nsv464365
Chromosome Location	chr7:11316581-11330387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:10977336..10979714-chr7:11321113..11323195,2	K562	blood:
2	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
3	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
4	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
5	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:
6	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:

Variant related genes	Relation type
ENSG00000189043	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11765838	chr7:11316581-11316582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182112734	chr7:11316588-11316589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186581277	chr7:11316614-11316615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560966459	chr7:11316632-11316633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17164202	chr7:11316728-11316729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112843097	chr7:11316743-11316744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117003887	chr7:11316772-11316773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200023607	chr7:11316775-11316776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531998850	chr7:11316791-11316792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551829550	chr7:11316800-11316801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568617789	chr7:11316827-11316828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10262329	chr7:11316836-11316837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368954283	chr7:11316861-11316862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150308854	chr7:11316868-11316869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372782559	chr7:11316879-11316880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557846397	chr7:11316903-11316904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568586981	chr7:11316906-11316907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75899415	chr7:11316927-11316928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554183440	chr7:11316930-11316931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533876020	chr7:11316956-11316957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114405340	chr7:11316975-11316976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184022933	chr7:11317027-11317028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17164205	chr7:11317059-11317060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576602119	chr7:11317088-11317089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67994626	chr7:11317092-11317093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35754622	chr7:11317100-11317101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12671628	chr7:11317113-11317114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540487904	chr7:11317120-11317121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115638317	chr7:11317122-11317123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188967663	chr7:11317192-11317193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73069491	chr7:11317196-11317197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113736124	chr7:11317247-11317248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562188860	chr7:11317271-11317272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143792672	chr7:11317272-11317273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79293459	chr7:11317352-11317353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373814933	chr7:11317405-11317406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17541593	chr7:11317410-11317411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534150637	chr7:11317426-11317427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77871592	chr7:11317443-11317444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571170255	chr7:11317448-11317449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540176726	chr7:11317462-11317463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111286089	chr7:11317463-11317464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576535785	chr7:11317464-11317465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142920141	chr7:11317480-11317481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145101626	chr7:11317489-11317490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73293723	chr7:11317495-11317496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7796369	chr7:11317530-11317531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553589088	chr7:11317537-11317538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193023271	chr7:11317562-11317563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545719138	chr7:11317577-11317578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11309800-11317200	Weak transcription	Liver	Liver
2	chr7:11315800-11316600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:11315800-11316800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:11316000-11316600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11316400-11316800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:11316400-11318000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:11316600-11318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:11316800-11318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:11318000-11318400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:11318000-11318400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:11318000-11319000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:11318200-11318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:11318200-11319200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:11321200-11321400	Enhancers	K562	blood
15	chr7:11321400-11322000	Flanking Active TSS	K562	blood
16	chr7:11322000-11322400	Enhancers	K562	blood
17	chr7:11327400-11328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:11327400-11328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:11328000-11328600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:11328000-11328800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:11328400-11328600	Enhancers	Pancreas	Pancrea
22	chr7:11329400-11329600	Enhancers	Pancreas	Pancrea

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