Variant report

Variant	nsv1005381
Chromosome Location	chr3:80519962-80584887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:80526903..80528462-chr3:80531241..80532798,2	K562	blood:
2	chr3:80575021..80575834-chr3:80725791..80726747,5	MCF-7	breast:
3	chr3:80526903..80528462-chr3:80531241..80532798,2	K562	blood:
4	chr3:43288749..43289351-chr3:80526194..80527099,2	MCF-7	breast:

Extended variants
information (count: 543 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13090802	chr3:80521865-80521866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72907068	chr3:80521908-80521909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573253466	chr3:80521918-80521919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536835269	chr3:80521999-80522000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542282122	chr3:80522009-80522010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562570100	chr3:80522060-80522061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72907069	chr3:80522061-80522062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572958210	chr3:80522120-80522121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72907070	chr3:80522143-80522144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545049689	chr3:80522144-80522145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115295405	chr3:80522148-80522149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547675685	chr3:80522154-80522155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561171088	chr3:80522180-80522181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568033185	chr3:80545003-80545004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185994885	chr3:80545009-80545010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372861298	chr3:80545048-80545049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572687840	chr3:80545056-80545057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541711073	chr3:80545092-80545093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376108520	chr3:80545130-80545131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114067765	chr3:80545131-80545132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190453544	chr3:80545135-80545136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11918372	chr3:80545136-80545137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116944718	chr3:80545152-80545153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552262009	chr3:80545294-80545295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559090535	chr3:80545356-80545357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377038245	chr3:80545408-80545409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548009742	chr3:80545409-80545410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568000741	chr3:80545432-80545433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537392336	chr3:80545480-80545481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114465893	chr3:80545493-80545494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139093039	chr3:80545569-80545570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538716310	chr3:80545590-80545591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560711859	chr3:80545608-80545609	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144060292	chr3:80545620-80545621	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560101740	chr3:80545656-80545657	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572646744	chr3:80545658-80545659	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535206869	chr3:80545666-80545667	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182708578	chr3:80545683-80545684	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575020717	chr3:80545712-80545713	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544100565	chr3:80545747-80545748	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs376037404	chr3:80545748-80545749	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536222815	chr3:80545766-80545767	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139927877	chr3:80545776-80545777	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7646688	chr3:80545791-80545792	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559002253	chr3:80545797-80545798	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542762259	chr3:80545805-80545806	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78987311	chr3:80545831-80545832	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs55637727	chr3:80545853-80545854	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561596652	chr3:80545867-80545868	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530669192	chr3:80545903-80545904	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80521800-80522200	Enhancers	Placenta	Placenta
2	chr3:80545000-80545600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:80545600-80546000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:80545600-80546200	ZNF genes & repeats	Pancreas	Pancrea
5	chr3:80545600-80547200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:80556400-80565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:80562600-80563200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:80565800-80566000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:80574800-80575200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:80574800-80575400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:80582200-80583800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:80582400-80583200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:80582400-80583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:80582400-80583400	Enhancers	NHEK	skin

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