Variant report

Variant	nsv520555
Chromosome Location	chr7:27952629-27958750
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	chr7:27957341..27960196-chr7:27962479..27964875,2	K562	blood:
2	chr7:27956076..27958841-chr7:27959567..27962104,2	MCF-7	breast:

Extended variants
information (count: 203 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs209	chr7:27952629-27952630	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537887115	chr7:27952655-27952656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549889137	chr7:27952747-27952748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568572056	chr7:27952748-27952749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374775564	chr7:27952764-27952765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573299784	chr7:27952775-27952776	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184734117	chr7:27952784-27952785	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554206939	chr7:27952789-27952790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568011787	chr7:27952791-27952792	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367800604	chr7:27952830-27952831	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10271850	chr7:27952859-27952860	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550027964	chr7:27952875-27952876	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558535956	chr7:27952879-27952880	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576800324	chr7:27952881-27952882	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560613642	chr7:27952882-27952883	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112024155	chr7:27952885-27952886	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189598409	chr7:27952892-27952893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144662363	chr7:27952895-27952896	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569071390	chr7:27952899-27952900	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74542517	chr7:27952924-27952925	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533657194	chr7:27952940-27952941	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148091356	chr7:27953017-27953018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180675153	chr7:27953023-27953024	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs210	chr7:27953035-27953036	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527527356	chr7:27953037-27953038	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76302581	chr7:27953068-27953069	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142800349	chr7:27953141-27953142	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185059626	chr7:27953147-27953148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531478426	chr7:27953211-27953212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550023602	chr7:27953234-27953235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571734661	chr7:27953235-27953236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568380800	chr7:27953272-27953273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188310380	chr7:27953327-27953328	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547580816	chr7:27953347-27953348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79603145	chr7:27953365-27953366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183311521	chr7:27953371-27953372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567450146	chr7:27953381-27953382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375436306	chr7:27953405-27953406	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146266248	chr7:27953424-27953425	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181826875	chr7:27953491-27953492	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117548275	chr7:27953492-27953493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139459376	chr7:27953506-27953507	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537359849	chr7:27953553-27953554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147313888	chr7:27953575-27953576	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377511611	chr7:27953578-27953579	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555984721	chr7:27953593-27953594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574351837	chr7:27953604-27953605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10486566	chr7:27953631-27953632	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186382593	chr7:27953659-27953660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571790335	chr7:27953706-27953707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27937600-27953800	Weak transcription	Right Ventricle	heart
3	chr7:27937600-27956200	Weak transcription	Gastric	stomach
4	chr7:27939200-27953000	Weak transcription	Left Ventricle	heart
5	chr7:27941200-27954400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:27941200-27956200	Weak transcription	Aorta	Aorta
7	chr7:27941400-27957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:27941600-27956000	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:27941600-27962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:27942200-27953800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27942200-27956000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:27946600-27953400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:27946800-27953400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:27949000-27957400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:27949400-27954400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:27949600-27953200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:27949600-27953400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:27949600-27955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:27950400-27953400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:27950400-27953600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:27950400-27957400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:27950400-27963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:27950600-27953400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:27950600-27953600	Weak transcription	Fetal Heart	heart
27	chr7:27950600-27954200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:27950600-27956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:27950600-27957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:27950600-27957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:27950600-27957200	Weak transcription	HSMMtube	muscle
32	chr7:27950800-27958200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:27951400-27963000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:27952000-27954200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:27952200-27953600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:27952200-27956000	Weak transcription	HMEC	breast
37	chr7:27952400-27953200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:27952400-27955000	Strong transcription	Primary B cells from cord blood	blood
39	chr7:27952600-27953800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:27952600-27954000	Weak transcription	Psoas Muscle	Psoas
41	chr7:27952600-27959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:27952600-27960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:27952800-27954000	Weak transcription	Right Atrium	heart
44	chr7:27953000-27953200	Enhancers	Left Ventricle	heart
45	chr7:27953200-27953600	Weak transcription	Left Ventricle	heart
46	chr7:27953200-27953800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:27953400-27953600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:27953400-27954400	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:27953400-27955000	Enhancers	Colon Smooth Muscle	Colon
50	chr7:27953600-27954000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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