Variant report

Variant	nsv8068
Chromosome Location	chr7:19618846-19682421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19161315..19162333-chr7:19661177..19662063,3	MCF-7	breast:
2	chr2:135445671..135446510-chr7:19643090..19643903,2	MCF-7	breast:
3	chr7:19641533..19643172-chr7:19643344..19645387,2	K562	blood:
4	chr7:19641533..19643172-chr7:19643344..19645387,2	K562	blood:

Extended variants
information (count: 669 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560961466	chr7:19619610-19619611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386710962	chr7:19619618-19619619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371812325	chr7:19619629-19619630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7786622	chr7:19619640-19619641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7805790	chr7:19619643-19619644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533556357	chr7:19619660-19619661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185413063	chr7:19619680-19619681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10244939	chr7:19619689-19619690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542158649	chr7:19619736-19619737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190662989	chr7:19619761-19619762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545571049	chr7:19619791-19619792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528011956	chr7:19619864-19619865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4626493	chr7:19619868-19619869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567659073	chr7:19619878-19619879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537904007	chr7:19619916-19619917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2390142	chr7:19619922-19619923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369642244	chr7:19619938-19619939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73681810	chr7:19619961-19619962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372331874	chr7:19619963-19619964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141270677	chr7:19619966-19619967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2390143	chr7:19619995-19619996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542299067	chr7:19623021-19623022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183835253	chr7:19623064-19623065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10273311	chr7:19623068-19623069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566825259	chr7:19623069-19623070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10228147	chr7:19623091-19623092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189857825	chr7:19623095-19623096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550097106	chr7:19623105-19623106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555223490	chr7:19623143-19623144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114706902	chr7:19623153-19623154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369273931	chr7:19623175-19623176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537683105	chr7:19623221-19623222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575848317	chr7:19623267-19623268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4721793	chr7:19623268-19623269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377653691	chr7:19623274-19623275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555030399	chr7:19623294-19623295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544575503	chr7:19623351-19623352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4721794	chr7:19623358-19623359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540223301	chr7:19623367-19623368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542713410	chr7:19623386-19623387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560868658	chr7:19623449-19623450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28617207	chr7:19623465-19623466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145659999	chr7:19623477-19623478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373126219	chr7:19623495-19623496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533691396	chr7:19623499-19623500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551757383	chr7:19623505-19623506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116356237	chr7:19623523-19623524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527729848	chr7:19623562-19623563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1074858	chr7:19623571-19623572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568681769	chr7:19623636-19623637	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19619600-19620000	Enhancers	HSMM	muscle
2	chr7:19623000-19624000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:19625600-19626200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:19634800-19635600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:19635200-19635800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:19641600-19642800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr7:19641600-19643000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:19642400-19642800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr7:19643000-19645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:19645000-19645400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:19652600-19653400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:19657600-19661800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:19658400-19661000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:19658400-19661800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19658600-19659000	Enhancers	HSMM	muscle
16	chr7:19661000-19662800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:19661800-19663400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:19662800-19663400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:19663400-19663600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:19673200-19673600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:19673200-19673600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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