Variant report

Variant	nsv980058
Chromosome Location	chr3:61355685-61361013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200768524	chr3:61355713-61355714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113139255	chr3:61355714-61355715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527592874	chr3:61355737-61355738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143358086	chr3:61355743-61355744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201755790	chr3:61355744-61355745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200285536	chr3:61355746-61355747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150621394	chr3:61355752-61355753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376643239	chr3:61355753-61355754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114707909	chr3:61355769-61355770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570313838	chr3:61355775-61355776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186845711	chr3:61355786-61355787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75761448	chr3:61355816-61355817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568109678	chr3:61355835-61355836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535511811	chr3:61355851-61355852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144268525	chr3:61355858-61355859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201188088	chr3:61355886-61355887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571001864	chr3:61355896-61355897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540160454	chr3:61355901-61355902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191683853	chr3:61355915-61355916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73837529	chr3:61355930-61355931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140087904	chr3:61355953-61355954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79494554	chr3:61355957-61355958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373030982	chr3:61355977-61355978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574082168	chr3:61356014-61356015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143725929	chr3:61356021-61356022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559341862	chr3:61356083-61356084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146841588	chr3:61356085-61356086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552061657	chr3:61356153-61356154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564263363	chr3:61356173-61356174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531630484	chr3:61356175-61356176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369956788	chr3:61356194-61356195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549737739	chr3:61356195-61356196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183127443	chr3:61356249-61356250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13061149	chr3:61356250-61356251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376276654	chr3:61356290-61356291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140684745	chr3:61356370-61356371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565683557	chr3:61356389-61356390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539401122	chr3:61356422-61356423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186552395	chr3:61356439-61356440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144501084	chr3:61356479-61356480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576712636	chr3:61356553-61356554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34569215	chr3:61356661-61356662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537729595	chr3:61356667-61356668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571605372	chr3:61356669-61356670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151116681	chr3:61356680-61356681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574147104	chr3:61356682-61356683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538800926	chr3:61356692-61356693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541128357	chr3:61356708-61356709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553006815	chr3:61356888-61356889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577704856	chr3:61356889-61356890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61345600-61356800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:61350200-61359400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:61356400-61357000	Enhancers	Fetal Kidney	kidney
4	chr3:61356800-61357000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:61357000-61358400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:61358400-61358600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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