Variant report

Variant	esv9059
Chromosome Location	chr7:11229190-11229977
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	chr7:11229782..11232630-chr7:11260914..11263136,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550577609	chr7:11229213-11229214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567295642	chr7:11229214-11229215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543587178	chr7:11229222-11229223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373190674	chr7:11229239-11229240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150097154	chr7:11229242-11229243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559065673	chr7:11229246-11229247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186726513	chr7:11229263-11229264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191389096	chr7:11229264-11229265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377084776	chr7:11229265-11229266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6959119	chr7:11229267-11229268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185486096	chr7:11229276-11229277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559766094	chr7:11229284-11229285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190790299	chr7:11229290-11229291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181705099	chr7:11229294-11229295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141477501	chr7:11229299-11229300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377626064	chr7:11229306-11229307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77997603	chr7:11229309-11229310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28651493	chr7:11229312-11229313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200204691	chr7:11229314-11229315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201835099	chr7:11229328-11229329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145157990	chr7:11229335-11229336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565058572	chr7:11229405-11229406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530931040	chr7:11229491-11229492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373248508	chr7:11229511-11229512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138969751	chr7:11229517-11229518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536239304	chr7:11229534-11229535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551815036	chr7:11229535-11229536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567057234	chr7:11229572-11229573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539283606	chr7:11229576-11229577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143869279	chr7:11229595-11229596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558905249	chr7:11229600-11229601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77854313	chr7:11229620-11229621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370440667	chr7:11229633-11229634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536816329	chr7:11229635-11229636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568972785	chr7:11229638-11229639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575769231	chr7:11229642-11229643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536777873	chr7:11229648-11229649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557083317	chr7:11229654-11229655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374889364	chr7:11229659-11229660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386710285	chr7:11229660-11229661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202079624	chr7:11229664-11229665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6460793	chr7:11229665-11229666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7777175	chr7:11229672-11229673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7777179	chr7:11229683-11229684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367560595	chr7:11229688-11229689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13247163	chr7:11229692-11229693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373570363	chr7:11229695-11229696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545262262	chr7:11229703-11229704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564959759	chr7:11229728-11229729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6943417	chr7:11229729-11229730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11222600-11232000	Weak transcription	Liver	Liver
2	chr7:11224600-11232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:11228400-11231200	Weak transcription	HepG2	liver
4	chr7:11228600-11231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:11228800-11230600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:11228800-11230600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:11228800-11231000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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