Variant report

Variant	nsv876860
Chromosome Location	chr3:60531242-60557685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60532780..60534867-chr3:60539940..60541452,2	K562	blood:
2	chr3:60540686..60542357-chr3:60544396..60547360,2	MCF-7	breast:
3	chr3:60532780..60534867-chr3:60539940..60541452,2	K562	blood:
4	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
5	chr3:60540686..60542357-chr3:60544396..60547360,2	MCF-7	breast:

Extended variants
information (count: 1520 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1520 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6807877	chr3:60531242-60531243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143642796	chr3:60531256-60531257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529755535	chr3:60531266-60531267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547994407	chr3:60531295-60531296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs241675	chr3:60531297-60531298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184537016	chr3:60531308-60531309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187697723	chr3:60531345-60531346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193110744	chr3:60531359-60531360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13099227	chr3:60531361-60531362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35722852	chr3:60531403-60531404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536551075	chr3:60531429-60531430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150155543	chr3:60531431-60531432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373638927	chr3:60531465-60531466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542888001	chr3:60531493-60531494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549720491	chr3:60531508-60531509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112878002	chr3:60531599-60531600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374472806	chr3:60531601-60531602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397714307	chr3:60531602-60531603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201959863	chr3:60531603-60531604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568374276	chr3:60531609-60531610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535911312	chr3:60531629-60531630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554000891	chr3:60531683-60531684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529835532	chr3:60531712-60531713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185558103	chr3:60531714-60531715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561513173	chr3:60531738-60531739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189163209	chr3:60531740-60531741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73105619	chr3:60531810-60531811	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140078762	chr3:60531833-60531834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181684092	chr3:60531838-60531839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577161699	chr3:60531860-60531861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138644960	chr3:60531868-60531869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184463093	chr3:60531873-60531874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558109791	chr3:60531911-60531912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111705913	chr3:60531937-60531938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188826496	chr3:60531959-60531960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560025028	chr3:60532005-60532006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527879136	chr3:60532052-60532053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181315189	chr3:60532073-60532074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549592441	chr3:60532078-60532079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531846665	chr3:60532139-60532140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550080159	chr3:60532159-60532160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576577836	chr3:60532171-60532172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374793953	chr3:60532203-60532204	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185968197	chr3:60532207-60532208	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535512337	chr3:60532208-60532209	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547857737	chr3:60532214-60532215	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs144674812	chr3:60532238-60532239	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs57532852	chr3:60532240-60532241	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs371964298	chr3:60532244-60532245	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377442043	chr3:60532291-60532292	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Burkitt''s lymphoma	20823134	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60531000-60531600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:60531000-60534400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:60531200-60531600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:60531200-60532200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:60531200-60533800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:60531200-60536200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:60531400-60531600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:60531400-60533800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:60531600-60531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:60531600-60533400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:60531600-60533600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:60531800-60532200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:60532000-60532200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:60532200-60532600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:60532200-60532600	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:60532200-60532600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:60532200-60533000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:60532600-60533800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:60533000-60536200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:60533400-60534000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:60533400-60534200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:60533400-60534400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:60533400-60536000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:60533600-60533800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:60533600-60536800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:60533800-60534000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:60533800-60534000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:60533800-60541200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:60533800-60541200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:60533800-60541400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:60534000-60534400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:60534000-60535400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:60534000-60541000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:60534200-60534400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr3:60534200-60540600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:60534400-60535400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:60534400-60535800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:60534400-60541000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:60535000-60535200	Enhancers	Brain Substantia Nigra	brain
40	chr3:60535200-60537800	Weak transcription	Brain Substantia Nigra	brain
41	chr3:60535400-60536000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:60535400-60536200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:60536000-60536400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:60536000-60540200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:60536200-60540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:60536400-60536600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:60536600-60537000	Enhancers	Aorta	Aorta
48	chr3:60536600-60540600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:60536800-60540600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:60537000-60537200	Active TSS	HSMM	muscle

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