Variant report

Variant	nsv971165
Chromosome Location	chr7:11526079-11530294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs12537175	chr7:11526084-11526085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545324465	chr7:11526105-11526106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529820697	chr7:11526134-11526135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375008062	chr7:11526180-11526181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374996103	chr7:11526215-11526216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386710308	chr7:11526218-11526219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539080972	chr7:11526221-11526222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386710309	chr7:11526222-11526223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10609833	chr7:11526227-11526228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369445512	chr7:11526229-11526230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6955788	chr7:11526278-11526279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146616865	chr7:11526346-11526347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186709821	chr7:11526349-11526350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78573816	chr7:11526379-11526380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573766831	chr7:11526398-11526399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192015854	chr7:11526450-11526451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553023555	chr7:11526472-11526473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144634385	chr7:11526499-11526500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376453308	chr7:11526501-11526502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544647320	chr7:11526546-11526547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182882682	chr7:11526561-11526562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530477771	chr7:11526586-11526587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369675092	chr7:11526620-11526621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373143526	chr7:11526633-11526634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543925528	chr7:11526662-11526663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561499100	chr7:11526684-11526685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147449792	chr7:11526745-11526746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547267920	chr7:11526773-11526774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186403061	chr7:11526780-11526781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371074332	chr7:11526815-11526816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532864098	chr7:11526841-11526842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190294413	chr7:11526858-11526859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546512431	chr7:11526862-11526863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573678302	chr7:11526887-11526888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139848425	chr7:11526891-11526892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114379647	chr7:11526899-11526900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147514127	chr7:11526911-11526912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569158663	chr7:11526944-11526945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73068778	chr7:11526980-11526981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555085399	chr7:11526981-11526982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370706184	chr7:11526988-11526989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575102438	chr7:11526989-11526990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536106653	chr7:11527003-11527004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182113333	chr7:11527067-11527068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553225096	chr7:11527087-11527088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368940001	chr7:11527095-11527096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544906266	chr7:11527134-11527135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112344933	chr7:11527151-11527152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374117629	chr7:11527161-11527162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574909448	chr7:11527182-11527183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11514200-11531600	Weak transcription	Fetal Lung	lung
2	chr7:11521600-11538600	Weak transcription	Pancreas	Pancrea
3	chr7:11525000-11526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:11526200-11526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:11527600-11528000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:11527600-11530000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:11527600-11530200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:11528000-11528200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:11528000-11530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:11528000-11530200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:11528000-11530400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:11528200-11528600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:11528200-11530200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:11528400-11528800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:11528400-11529200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:11528400-11529400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:11528400-11529400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:11528400-11530000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:11528600-11528800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:11528600-11529400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr7:11528600-11529400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:11528800-11529200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:11528800-11529400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:11528800-11531400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:11529000-11529400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:11529200-11529400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:11529200-11529400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:11529400-11529800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:11530000-11532000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:11530200-11531200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:11530200-11531400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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