Variant report

Variant	nsv971168
Chromosome Location	chr7:19961685-19968294
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	chr7:19953806..19956698-chr7:19965814..19968012,2	K562	blood:

Extended variants
information (count: 263 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:263 , 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	rs537767552	chr7:19961710-19961711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17142213	chr7:19961715-19961716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577223633	chr7:19961757-19961758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs719924	chr7:19961794-19961795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192686336	chr7:19961832-19961833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553476039	chr7:19961836-19961837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572149918	chr7:19961887-19961888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146676985	chr7:19961901-19961902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148401532	chr7:19961907-19961908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142716479	chr7:19961957-19961958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13221568	chr7:19961970-19961971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544941804	chr7:19961993-19961994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534379877	chr7:19961999-19962000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2190412	chr7:19962009-19962010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563136311	chr7:19962048-19962049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374749117	chr7:19962051-19962052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575185925	chr7:19962066-19962067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533660085	chr7:19962074-19962075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551799345	chr7:19962087-19962088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566732442	chr7:19962092-19962093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34730920	chr7:19962099-19962100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34976267	chr7:19962115-19962116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549177788	chr7:19962153-19962154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567147339	chr7:19962200-19962201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151001711	chr7:19962238-19962239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189064459	chr7:19962241-19962242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548396921	chr7:19962309-19962310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76155548	chr7:19962332-19962333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144363008	chr7:19962337-19962338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115055214	chr7:19962344-19962345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538550585	chr7:19962346-19962347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537385153	chr7:19962354-19962355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13237702	chr7:19962374-19962375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192929704	chr7:19962414-19962415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147906485	chr7:19962429-19962430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555121723	chr7:19962436-19962437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554338787	chr7:19962456-19962457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560278383	chr7:19962474-19962475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111441016	chr7:19962495-19962496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544860965	chr7:19962513-19962514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563071675	chr7:19962519-19962520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184758882	chr7:19962597-19962598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11319486	chr7:19962625-19962626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77180396	chr7:19962638-19962639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398003898	chr7:19962639-19962640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141690179	chr7:19962647-19962648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560552306	chr7:19962674-19962675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369389868	chr7:19962691-19962692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527660946	chr7:19962725-19962726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369189041	chr7:19962727-19962728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19954800-19973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:19956400-19988000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:19960000-19983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:19960800-19972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:19960800-19982800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:19960800-19993200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:19961200-19963200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:19965000-19985600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:19965600-19965800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:19965800-19967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:19967400-19968200	Enhancers	A549	lung
12	chr7:19967400-19968600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:19967400-19968800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:19967600-19967800	Enhancers	GM12878-XiMat	blood
15	chr7:19967600-19968200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:19967600-19968400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:19967800-19968200	Enhancers	HMEC	breast
18	chr7:19967800-19968400	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:19967800-19969000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:19967800-19969000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:19968000-19968400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:19968200-19968800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:19968200-19969200	Flanking Active TSS	A549	lung

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