Variant report

Variant	esv3361431
Chromosome Location	chr7:11362996-11370273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11175308..11177163-chr7:11367863..11369367,2	MCF-7	breast:
2	chr7:11352516..11354876-chr7:11367458..11369669,2	MCF-7	breast:
3	chr7:11310747..11312959-chr7:11363468..11365814,2	MCF-7	breast:

Extended variants
information (count: 366 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35888202	chr7:11363006-11363007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140394391	chr7:11363007-11363008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554962802	chr7:11363008-11363009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565401452	chr7:11363028-11363029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534397415	chr7:11363029-11363030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557457608	chr7:11363035-11363036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578108076	chr7:11363059-11363060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544035459	chr7:11363084-11363085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150368534	chr7:11363099-11363100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574279926	chr7:11363116-11363117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138043045	chr7:11363120-11363121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543486287	chr7:11363126-11363127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149094625	chr7:11363186-11363187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181806342	chr7:11363298-11363299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563675382	chr7:11363299-11363300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545499107	chr7:11363344-11363345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144755199	chr7:11363358-11363359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565429020	chr7:11363382-11363383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186451524	chr7:11363389-11363390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549960924	chr7:11363400-11363401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77549710	chr7:11363447-11363448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565190887	chr7:11363501-11363502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529211782	chr7:11363537-11363538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114447765	chr7:11363544-11363545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565323144	chr7:11363563-11363564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534356981	chr7:11363582-11363583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141626493	chr7:11363648-11363649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368231141	chr7:11363683-11363684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571322387	chr7:11363685-11363686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549462013	chr7:11363769-11363770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116065373	chr7:11363790-11363791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2354364	chr7:11363792-11363793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546549043	chr7:11363798-11363799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146186203	chr7:11363809-11363810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566284888	chr7:11363816-11363817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528918155	chr7:11363879-11363880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191572712	chr7:11363903-11363904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375851525	chr7:11363905-11363906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553735692	chr7:11363917-11363918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573263121	chr7:11363921-11363922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528744855	chr7:11363929-11363930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545462391	chr7:11363934-11363935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572894322	chr7:11363954-11363955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551944633	chr7:11363994-11363995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549093030	chr7:11363999-11364000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565196648	chr7:11364040-11364041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4270846	chr7:11364082-11364083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74908074	chr7:11364105-11364106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182146554	chr7:11364109-11364110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111728664	chr7:11364147-11364148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11353600-11367600	Weak transcription	Adipose Nuclei	Adipose
2	chr7:11357600-11367000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:11362600-11383200	Weak transcription	Liver	Liver
4	chr7:11365600-11365800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11365800-11366000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:11366000-11367400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:11367000-11368600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:11367400-11368200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:11367400-11368200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:11367600-11368200	Enhancers	Fetal Kidney	kidney
11	chr7:11367600-11368400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:11367600-11368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:11367600-11368600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:11367600-11368600	Enhancers	Adipose Nuclei	Adipose
15	chr7:11367600-11370200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:11367800-11368200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:11367800-11368200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:11367800-11368600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:11368000-11368200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:11368000-11368400	Enhancers	HSMMtube	muscle
21	chr7:11368000-11368600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:11368000-11368600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:11368000-11368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:11368200-11369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:11368600-11369000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:11369000-11369400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:11369000-11369800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:11369000-11370800	Enhancers	Adipose Nuclei	Adipose
29	chr7:11369800-11370600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:11369800-11371200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:11370200-11370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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