Variant report

Variant	nsv963563
Chromosome Location	chr3:81426328-81439262
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	chr3:81422733..81424855-chr3:81437151..81439095,2	MCF-7	breast:
2	chr18:36266259..36267214-chr3:81430138..81430893,2	MCF-7	breast:

Extended variants
information (count: 372 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530443884	chr3:81426330-81426331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190303810	chr3:81426353-81426354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564412103	chr3:81426406-81426407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151080359	chr3:81426473-81426474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560519095	chr3:81426526-81426527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35143570	chr3:81426528-81426529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549683459	chr3:81426537-81426538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141042957	chr3:81426569-81426570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566028308	chr3:81426582-81426583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144953141	chr3:81426595-81426596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532276445	chr3:81426630-81426631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17018863	chr3:81426637-81426638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181712670	chr3:81426639-81426640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537452055	chr3:81426657-81426658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116376066	chr3:81426662-81426663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147952688	chr3:81426667-81426668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539633926	chr3:81426738-81426739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562174439	chr3:81426753-81426754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553564314	chr3:81426772-81426773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62267727	chr3:81426787-81426788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141166321	chr3:81426790-81426791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111535935	chr3:81426857-81426858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185839156	chr3:81426888-81426889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373251391	chr3:81426999-81427000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150295739	chr3:81427014-81427015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564218231	chr3:81427031-81427032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190346316	chr3:81427093-81427094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546458714	chr3:81427100-81427101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144948140	chr3:81427111-81427112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529117304	chr3:81427120-81427121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548662561	chr3:81427154-81427155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568571031	chr3:81427170-81427171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529246110	chr3:81427185-81427186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182547081	chr3:81427186-81427187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149048926	chr3:81427197-81427198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6777548	chr3:81427224-81427225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186251228	chr3:81427251-81427252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114813022	chr3:81427310-81427311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566689045	chr3:81427381-81427382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191081119	chr3:81427386-81427387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533842039	chr3:81427409-81427410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555043956	chr3:81427431-81427432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575037999	chr3:81427439-81427440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12494289	chr3:81427458-81427459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182498365	chr3:81427469-81427470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577589659	chr3:81427476-81427477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540487507	chr3:81427478-81427479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375177916	chr3:81427483-81427484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560468289	chr3:81427489-81427490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563814345	chr3:81427505-81427506	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81425200-81426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:81426600-81426800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:81426600-81430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:81427400-81428200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:81427600-81429400	Enhancers	Dnd41	blood
6	chr3:81428200-81428600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:81428600-81430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:81429000-81429200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:81429000-81429400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:81429200-81429600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:81429600-81429800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:81432400-81432800	Enhancers	Fetal Brain Female	brain
13	chr3:81432400-81433000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:81432800-81435000	Weak transcription	Fetal Brain Male	brain
15	chr3:81432800-81435400	Weak transcription	Fetal Brain Female	brain
16	chr3:81433000-81435600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:81435000-81435200	Enhancers	Fetal Brain Male	brain
18	chr3:81435000-81435800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:81435200-81435600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:81435200-81435600	Weak transcription	Fetal Brain Male	brain
21	chr3:81435400-81435600	Enhancers	Fetal Brain Female	brain
22	chr3:81435400-81436200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:81435600-81436400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:81435600-81437400	Enhancers	Fetal Brain Male	brain
25	chr3:81435800-81436600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:81436200-81446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:81436400-81441400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:81437400-81442600	Weak transcription	Fetal Brain Male	brain

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