Variant report

Variant	nsv1014077
Chromosome Location	chr3:102032787-102066539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:102065265..102067946-chr3:102070779..102072872,2	K562	blood:
2	chr3:102043009..102043544-chr3:102172789..102173389,2	MCF-7	breast:
3	chr3:102029546..102031355-chr3:102034069..102035850,2	K562	blood:
4	chr3:102043009..102043823-chr3:102172889..102173620,2	MCF-7	breast:

Extended variants
information (count: 834 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568343910	chr3:102032797-102032798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567338549	chr3:102032879-102032880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535773750	chr3:102032885-102032886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs67540811	chr3:102032906-102032907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186359616	chr3:102032963-102032964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555841256	chr3:102033009-102033010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535219226	chr3:102033019-102033020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190801954	chr3:102033065-102033066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144361026	chr3:102033078-102033079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181087654	chr3:102033087-102033088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540210593	chr3:102033088-102033089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571211381	chr3:102033162-102033163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561375686	chr3:102033230-102033231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142341197	chr3:102033279-102033280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374959709	chr3:102033280-102033281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573323625	chr3:102033309-102033310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369409897	chr3:102033310-102033311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11927866	chr3:102033335-102033336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532511727	chr3:102033340-102033341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141010088	chr3:102033430-102033431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555193306	chr3:102033442-102033443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533523930	chr3:102033461-102033462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574793928	chr3:102033651-102033652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551736355	chr3:102033668-102033669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560624543	chr3:102033673-102033674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374103047	chr3:102033738-102033739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527814464	chr3:102033770-102033771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116817162	chr3:102033775-102033776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111252173	chr3:102033809-102033810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113376763	chr3:102033819-102033820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185929246	chr3:102033825-102033826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539008462	chr3:102033881-102033882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554421620	chr3:102033906-102033907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9883780	chr3:102033931-102033932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569058897	chr3:102033954-102033955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111816897	chr3:102033959-102033960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557704664	chr3:102034038-102034039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78611683	chr3:102034056-102034057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147557234	chr3:102034057-102034058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555059367	chr3:102034151-102034152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191024445	chr3:102034152-102034153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543811559	chr3:102034172-102034173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373259562	chr3:102034206-102034207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4368478	chr3:102034223-102034224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73157410	chr3:102034241-102034242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115423885	chr3:102034280-102034281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560549001	chr3:102034347-102034348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527905785	chr3:102034351-102034352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114465058	chr3:102034357-102034358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367585449	chr3:102034407-102034408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102029400-102040400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:102040800-102041600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:102047800-102048600	Enhancers	NHDF-Ad	bronchial
4	chr3:102050600-102058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:102050800-102052200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:102051200-102052000	Enhancers	NHEK	skin
7	chr3:102052200-102065800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:102055000-102055200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:102055200-102058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:102058200-102058600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:102058200-102058600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:102058400-102058800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:102058400-102058800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:102058400-102058800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:102058400-102059600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:102059600-102062000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:102062000-102062600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:102065800-102066400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:102065800-102066400	Enhancers	HMEC	breast
20	chr3:102065800-102066800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:102065800-102066800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:102065800-102066800	Enhancers	NHEK	skin
23	chr3:102066000-102066400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:102066000-102066400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:102066000-102066600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:102066400-102073400	Weak transcription	Muscle Satellite Cultured Cells	--

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