Variant report

Variant	esv3404395
Chromosome Location	chr7:11698727-11703625
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	chr7:11693718..11695919-chr7:11698554..11700578,2	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:206 , 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	rs188229536	chr7:11698760-11698761	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550097172	chr7:11698768-11698769	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573966262	chr7:11698800-11698801	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs374410596	chr7:11698801-11698802	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569959975	chr7:11698803-11698804	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536720338	chr7:11698812-11698813	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555355388	chr7:11698880-11698881	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138338711	chr7:11698900-11698901	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143822090	chr7:11698912-11698913	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536438560	chr7:11698923-11698924	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548839825	chr7:11698924-11698925	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543643358	chr7:11698954-11698955	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs146217791	chr7:11698961-11698962	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs573949361	chr7:11698962-11698963	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542631413	chr7:11699022-11699023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559285804	chr7:11699025-11699026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528450315	chr7:11699049-11699050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs725588	chr7:11699149-11699150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573155936	chr7:11699151-11699152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565233128	chr7:11699182-11699183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533195891	chr7:11699333-11699334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2078585	chr7:11699336-11699337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193175479	chr7:11699366-11699367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373931666	chr7:11699367-11699368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79616805	chr7:11699373-11699374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563705764	chr7:11699382-11699383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563581259	chr7:11699427-11699428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57298572	chr7:11699463-11699464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543144051	chr7:11699481-11699482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549015290	chr7:11699557-11699558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565714306	chr7:11699578-11699579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534319446	chr7:11699583-11699584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138658202	chr7:11699607-11699608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149315287	chr7:11699620-11699621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563236920	chr7:11699630-11699631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28497544	chr7:11699638-11699639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557101580	chr7:11699644-11699645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144553682	chr7:11699711-11699712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78463346	chr7:11699736-11699737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57380018	chr7:11699763-11699764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148442878	chr7:11699770-11699771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541378805	chr7:11699773-11699774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75765620	chr7:11699789-11699790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528886819	chr7:11699796-11699797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183979685	chr7:11699816-11699817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116072282	chr7:11699856-11699857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142503674	chr7:11699874-11699875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529085237	chr7:11699877-11699878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188712936	chr7:11699893-11699894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191388119	chr7:11699956-11699957	Weak transcription Enhancers	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11689400-11704200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:11695400-11699000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:11698000-11699000	Active TSS	A549	lung
4	chr7:11698200-11699000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11698400-11704200	Weak transcription	Fetal Brain Male	brain
6	chr7:11698600-11699000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:11699000-11699200	Weak transcription	A549	lung
8	chr7:11699000-11699600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:11699200-11700000	Enhancers	A549	lung
10	chr7:11700000-11700400	Weak transcription	A549	lung
11	chr7:11700400-11702200	Enhancers	A549	lung
12	chr7:11702200-11704200	Weak transcription	A549	lung

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