Variant report

Variant	nsv519178
Chromosome Location	chr7:13744564-13761404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 264 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2848832	chr7:13744564-13744565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570349160	chr7:13744606-13744607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539226092	chr7:13744635-13744636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555913620	chr7:13744665-13744666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575350173	chr7:13744693-13744694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537912301	chr7:13744725-13744726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536115079	chr7:13744735-13744736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2190323	chr7:13744819-13744820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560749992	chr7:13744880-13744881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569616402	chr7:13744899-13744900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114957820	chr7:13744924-13744925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546439740	chr7:13744940-13744941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199962553	chr7:13744952-13744953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563033767	chr7:13745030-13745031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116880428	chr7:13745045-13745046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189678351	chr7:13745058-13745059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561767059	chr7:13745111-13745112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16877920	chr7:13745165-13745166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571146814	chr7:13745177-13745178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35560863	chr7:13745178-13745179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397797197	chr7:13745179-13745180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112672228	chr7:13745180-13745181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370364506	chr7:13745227-13745228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537398244	chr7:13745243-13745244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557273707	chr7:13745249-13745250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372884923	chr7:13745253-13745254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547700368	chr7:13745262-13745263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs118022065	chr7:13745311-13745312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376063591	chr7:13745326-13745327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539315395	chr7:13745380-13745381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73254762	chr7:13745390-13745391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183548277	chr7:13745400-13745401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538382926	chr7:13745413-13745414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17167418	chr7:13745414-13745415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553528304	chr7:13745423-13745424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57775577	chr7:13745424-13745425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533918609	chr7:13745428-13745429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554178971	chr7:13745438-13745439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577625765	chr7:13745462-13745463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79405183	chr7:13745472-13745473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568785829	chr7:13745484-13745485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563074765	chr7:13745503-13745504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150911081	chr7:13745525-13745526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386409549	chr7:13745526-13745527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79439198	chr7:13745528-13745529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73681442	chr7:13745552-13745553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541945617	chr7:13745559-13745560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1859689	chr7:13745606-13745607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371117043	chr7:13745636-13745637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368090029	chr7:13745675-13745676	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13743600-13745400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:13745400-13746400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:13745600-13745800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:13752800-13753400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:13753200-13753600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:13753200-13753800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:13753400-13755200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:13754000-13756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:13755000-13755600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:13757600-13758000	Enhancers	Fetal Heart	heart
11	chr7:13758000-13758200	Enhancers	Fetal Brain Male	brain

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