Variant report

Variant	nsv967182
Chromosome Location	chr3:76088251-76092560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149320116	chr3:76088275-76088276	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547364705	chr3:76088279-76088280	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs17013690	chr3:76088327-76088328	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34747449	chr3:76088361-76088362	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374304695	chr3:76088375-76088376	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543005213	chr3:76088455-76088456	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192058942	chr3:76088474-76088475	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532030771	chr3:76088482-76088483	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551690836	chr3:76088490-76088491	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560700300	chr3:76088511-76088512	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs57849407	chr3:76088535-76088536	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370560803	chr3:76088537-76088538	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs72890396	chr3:76088553-76088554	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549676882	chr3:76088560-76088561	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567845099	chr3:76088567-76088568	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538285548	chr3:76088584-76088585	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550197971	chr3:76088639-76088640	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12489859	chr3:76088670-76088671	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183512723	chr3:76088671-76088672	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539097088	chr3:76088693-76088694	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187949280	chr3:76088704-76088705	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144563986	chr3:76088767-76088768	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140465628	chr3:76088786-76088787	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148455087	chr3:76088810-76088811	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554889562	chr3:76088820-76088821	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs575927246	chr3:76088851-76088852	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543015858	chr3:76088861-76088862	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564497804	chr3:76088864-76088865	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576543112	chr3:76088868-76088869	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79960500	chr3:76088880-76088881	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs559159633	chr3:76088895-76088896	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371999151	chr3:76088920-76088921	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs147578750	chr3:76088952-76088953	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549304532	chr3:76088956-76088957	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs75941245	chr3:76088959-76088960	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570100917	chr3:76089047-76089048	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531997887	chr3:76089049-76089050	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192421120	chr3:76089065-76089066	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571635314	chr3:76089068-76089069	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538780270	chr3:76089127-76089128	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547898737	chr3:76089133-76089134	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566026270	chr3:76089203-76089204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536493716	chr3:76089208-76089209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375215050	chr3:76089226-76089227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367922773	chr3:76089238-76089239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555733225	chr3:76089276-76089277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200023641	chr3:76089308-76089309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183782895	chr3:76089318-76089319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140304154	chr3:76089373-76089374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189006362	chr3:76089383-76089384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76085000-76092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:76086800-76089600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:76087000-76088400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:76087000-76089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:76087200-76088600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:76087400-76088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:76087400-76089200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:76087600-76090600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:76087800-76088400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:76087800-76088400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:76087800-76088400	Enhancers	Fetal Lung	lung
12	chr3:76087800-76088600	Enhancers	HMEC	breast
13	chr3:76087800-76089000	Enhancers	NH-A	brain
14	chr3:76087800-76089200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:76088000-76088400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:76088000-76089200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:76088000-76089200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:76088000-76090400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:76088000-76092000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:76088000-76092000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:76088200-76088400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:76088200-76089000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr3:76088200-76089200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:76088200-76089200	Enhancers	NHEK	skin
25	chr3:76088200-76092400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:76088400-76088600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:76088400-76088600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr3:76088400-76088600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:76088400-76088800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr3:76088400-76089200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:76088400-76089200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:76088400-76090800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:76088600-76088800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:76088600-76088800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:76088600-76088800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:76088600-76090000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:76088600-76090800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:76088800-76089000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr3:76088800-76089000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr3:76088800-76089200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:76088800-76089200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr3:76089000-76089200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:76089000-76090200	Weak transcription	NH-A	brain
44	chr3:76089000-76092800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:76089000-76095400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:76089200-76089400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:76089200-76090000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:76089200-76090200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:76089200-76090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:76089200-76090400	Weak transcription	Muscle Satellite Cultured Cells	--

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