Variant report

Variant	nsv877036
Chromosome Location	chr3:80548364-80635204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:80575021..80575834-chr3:80725791..80726747,5	MCF-7	breast:
2	chr3:80627129..80630105-chr3:80631762..80633274,2	MCF-7	breast:
3	chr3:80627129..80630105-chr3:80631762..80633274,2	MCF-7	breast:
4	chr3:80634418..80636730-chr3:80639554..80641619,2	K562	blood:

Extended variants
information (count: 749 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189799116	chr3:80556425-80556426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572025731	chr3:80556434-80556435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540695923	chr3:80556435-80556436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116901412	chr3:80556460-80556461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113640942	chr3:80556477-80556478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200105958	chr3:80556552-80556553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370699479	chr3:80556578-80556579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532136448	chr3:80556588-80556589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182075664	chr3:80556616-80556617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563145802	chr3:80556636-80556637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148987201	chr3:80556647-80556648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552076104	chr3:80556681-80556682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565863845	chr3:80556724-80556725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561415924	chr3:80556728-80556729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186984943	chr3:80556734-80556735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547515595	chr3:80556748-80556749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73123763	chr3:80556752-80556753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536749177	chr3:80556758-80556759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115625306	chr3:80556806-80556807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556757044	chr3:80556813-80556814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58943270	chr3:80556842-80556843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74685219	chr3:80556918-80556919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559178768	chr3:80556926-80556927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374113526	chr3:80556933-80556934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572681967	chr3:80556935-80556936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35577120	chr3:80556941-80556942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2372661	chr3:80556953-80556954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542002412	chr3:80556954-80556955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183305611	chr3:80556991-80556992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574425844	chr3:80557039-80557040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543123807	chr3:80557076-80557077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571456529	chr3:80557125-80557126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1913635	chr3:80557195-80557196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188361686	chr3:80557278-80557279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547872615	chr3:80557329-80557330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190225173	chr3:80557338-80557339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34003621	chr3:80557350-80557351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77920492	chr3:80557353-80557354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7426726	chr3:80557390-80557391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7428842	chr3:80557392-80557393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114602249	chr3:80557555-80557556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115570045	chr3:80557556-80557557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530185127	chr3:80557561-80557562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550322105	chr3:80557581-80557582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150537983	chr3:80557598-80557599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550144597	chr3:80557640-80557641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570188538	chr3:80557706-80557707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75997592	chr3:80557732-80557733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12490708	chr3:80557735-80557736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537519219	chr3:80557743-80557744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80556400-80565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:80562600-80563200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:80565800-80566000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:80574800-80575200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:80574800-80575400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:80582200-80583800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:80582400-80583200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:80582400-80583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:80582400-80583400	Enhancers	NHEK	skin
10	chr3:80589200-80589600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:80589400-80589800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:80589400-80589800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:80591600-80591800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:80598000-80598200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:80598200-80598400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:80598200-80599800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:80598400-80599400	Enhancers	NHEK	skin
18	chr3:80598400-80605200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:80599400-80599800	Enhancers	Colon Smooth Muscle	Colon
20	chr3:80599400-80606000	Weak transcription	NHEK	skin
21	chr3:80599800-80602000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:80601000-80601200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:80601200-80601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:80602000-80603800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:80603800-80605200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:80605200-80605400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:80605200-80606400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:80605400-80605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:80605400-80606400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:80605800-80606400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:80606000-80606400	Enhancers	Fetal Intestine Small	intestine
32	chr3:80606000-80606400	Enhancers	NHEK	skin
33	chr3:80630000-80630400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:80630000-80630400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:80632000-80632200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:80635200-80635600	Enhancers	Pancreas	Pancrea

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