Variant report

Variant	nsv590965
Chromosome Location	chr3:89709444-89737883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127952533..127953285-chr3:89714580..89715363,2	MCF-7	breast:
2	chr20:52424950..52427553-chr3:89710194..89711857,2	MCF-7	breast:

Extended variants
information (count: 176 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570914766	chr3:89710204-89710205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533406954	chr3:89710243-89710244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551698126	chr3:89710277-89710278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200458390	chr3:89710330-89710331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570228162	chr3:89710403-89710404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537277618	chr3:89710475-89710476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181014040	chr3:89710483-89710484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547081146	chr3:89710509-89710510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567621818	chr3:89710540-89710541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576522306	chr3:89710560-89710561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535143211	chr3:89710735-89710736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11916699	chr3:89710736-89710737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114232634	chr3:89710755-89710756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578075739	chr3:89710778-89710779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185810162	chr3:89710849-89710850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557336961	chr3:89710850-89710851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575373340	chr3:89710853-89710854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374294521	chr3:89710896-89710897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542490979	chr3:89710903-89710904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559039590	chr3:89710905-89710906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369185711	chr3:89711001-89711002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561151877	chr3:89711071-89711072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568483741	chr3:89711140-89711141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34944155	chr3:89711143-89711144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149979308	chr3:89711161-89711162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187515709	chr3:89712413-89712414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143905245	chr3:89712469-89712470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192536177	chr3:89712539-89712540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528679778	chr3:89712556-89712557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547179490	chr3:89712559-89712560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75203463	chr3:89712629-89712630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368028619	chr3:89712672-89712673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565501536	chr3:89712679-89712680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184763803	chr3:89712710-89712711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568690322	chr3:89724844-89724845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377572410	chr3:89724871-89724872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370939898	chr3:89724934-89724935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374218830	chr3:89724949-89724950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537018754	chr3:89724950-89724951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113875144	chr3:89724990-89724991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532893482	chr3:89724991-89724992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536006510	chr3:89725015-89725016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148335196	chr3:89725044-89725045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545015045	chr3:89725045-89725046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79347877	chr3:89725064-89725065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533659267	chr3:89725097-89725098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558512783	chr3:89725101-89725102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576807244	chr3:89725133-89725134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556810743	chr3:89725139-89725140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79695793	chr3:89725171-89725172	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89710200-89711200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:89710600-89711000	Enhancers	Adipose Nuclei	Adipose
3	chr3:89712400-89712800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:89724800-89725400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:89725400-89726400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:89726400-89727000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:89731200-89732200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:89734600-89735000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:89734800-89735400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:89735000-89735400	Enhancers	Brain Germinal Matrix	brain

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