Variant report

Variant	esv274953
Chromosome Location	chr7:11782637-11785892
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	chr7:11778825..11780643-chr7:11781305..11783920,2	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs77408417	chr7:11782638-11782639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114992960	chr7:11782661-11782662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572802664	chr7:11782681-11782682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567998872	chr7:11782701-11782702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs999880	chr7:11782717-11782718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147321518	chr7:11782781-11782782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553508686	chr7:11782801-11782802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540068694	chr7:11782804-11782805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116343432	chr7:11782822-11782823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74718747	chr7:11782830-11782831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556175186	chr7:11782847-11782848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544499422	chr7:11782883-11782884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576754149	chr7:11782886-11782887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1465008	chr7:11782909-11782910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556133064	chr7:11782939-11782940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572756519	chr7:11782976-11782977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181930141	chr7:11782977-11782978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187433037	chr7:11782993-11782994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1465007	chr7:11782995-11782996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs543555741	chr7:11783016-11783017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73298422	chr7:11783127-11783128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs999879	chr7:11783138-11783139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6963014	chr7:11783139-11783140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527596528	chr7:11783184-11783185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190618605	chr7:11783219-11783220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548414949	chr7:11783264-11783265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570353836	chr7:11783300-11783301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5882321	chr7:11783323-11783324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539412219	chr7:11783365-11783366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139320553	chr7:11783424-11783425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569753929	chr7:11783440-11783441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536086606	chr7:11783542-11783543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183131338	chr7:11783576-11783577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10241394	chr7:11783604-11783605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143228993	chr7:11783660-11783661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558384889	chr7:11783662-11783663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79867646	chr7:11783669-11783670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569925903	chr7:11783680-11783681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563469387	chr7:11783693-11783694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2355077	chr7:11783800-11783801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542676388	chr7:11783839-11783840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74335314	chr7:11783898-11783899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147499258	chr7:11783916-11783917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1467345	chr7:11783917-11783918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs564393913	chr7:11783928-11783929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1467344	chr7:11783957-11783958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs549732073	chr7:11783981-11783982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75976787	chr7:11783990-11783991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535562158	chr7:11784024-11784025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140146103	chr7:11784043-11784044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11781800-11783000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:11782200-11783000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:11782200-11783000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:11782600-11785800	Weak transcription	A549	lung
5	chr7:11783000-11793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:11785800-11786400	ZNF genes & repeats	A549	lung

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