Variant report

Variant	esv3434598
Chromosome Location	chr3:89858062-89861960
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	chr3:89858428..89860418-chr3:89862912..89865718,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs545049014	chr3:89858098-89858099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563334091	chr3:89858137-89858138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11719091	chr3:89858157-89858158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76680207	chr3:89858163-89858164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542491900	chr3:89858201-89858202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76289597	chr3:89858220-89858221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111951051	chr3:89858226-89858227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528248710	chr3:89858254-89858255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377705595	chr3:89858276-89858277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571366352	chr3:89858283-89858284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79617218	chr3:89858299-89858300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80006158	chr3:89858325-89858326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144900045	chr3:89858364-89858365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142015951	chr3:89858407-89858408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555988992	chr3:89858473-89858474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79745690	chr3:89858501-89858502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567775486	chr3:89858545-89858546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535176020	chr3:89858587-89858588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138471156	chr3:89858639-89858640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556071593	chr3:89858661-89858662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577758106	chr3:89858664-89858665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542041771	chr3:89858690-89858691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114949521	chr3:89858694-89858695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142587853	chr3:89858696-89858697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575207002	chr3:89858699-89858700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530856085	chr3:89858763-89858764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184085973	chr3:89858777-89858778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114798886	chr3:89858778-89858779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540461056	chr3:89858784-89858785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564914383	chr3:89858804-89858805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187868899	chr3:89858809-89858810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552020980	chr3:89858812-89858813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550664775	chr3:89858826-89858827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115573791	chr3:89858835-89858836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529676399	chr3:89858836-89858837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549418783	chr3:89858856-89858857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142836134	chr3:89858865-89858866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1915731	chr3:89858877-89858878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528424745	chr3:89858892-89858893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547206946	chr3:89858894-89858895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571487985	chr3:89858913-89858914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546584348	chr3:89858943-89858944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551353768	chr3:89858991-89858992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367594303	chr3:89858992-89858993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557001426	chr3:89858994-89858995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143383105	chr3:89859027-89859028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545881826	chr3:89859040-89859041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192202325	chr3:89859052-89859053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573125588	chr3:89859083-89859084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141643967	chr3:89859090-89859091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89853200-89858200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:89858000-89858400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr3:89858200-89859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:89858400-89859000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr3:89859000-89861600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:89860400-89867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:89860800-89861200	ZNF genes & repeats	Pancreas	Pancrea
8	chr3:89861600-89861800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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