Variant report

Variant	esv3354662
Chromosome Location	chr3:78789062-78793160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:78787390..78790233-chr3:78791850..78793816,2	MCF-7	breast:
2	chr3:78787390..78790233-chr3:78791850..78793816,2	MCF-7	breast:
3	chr3:78789518..78792009-chr3:78800854..78802934,2	MCF-7	breast:

Extended variants
information (count: 154 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs186940573	chr3:78789087-78789088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149823371	chr3:78789092-78789093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115712489	chr3:78789094-78789095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542134719	chr3:78789122-78789123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561720814	chr3:78789129-78789130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530941091	chr3:78789160-78789161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151279114	chr3:78789171-78789172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557505390	chr3:78789186-78789187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59698651	chr3:78789217-78789218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376234660	chr3:78789295-78789296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578044174	chr3:78789303-78789304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561589098	chr3:78789304-78789305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533312199	chr3:78789312-78789313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573206368	chr3:78789324-78789325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376090663	chr3:78789333-78789334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2608021	chr3:78789362-78789363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1185826	chr3:78789430-78789431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528359979	chr3:78789448-78789449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548524401	chr3:78789450-78789451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530864916	chr3:78789455-78789456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567917053	chr3:78789482-78789483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540573220	chr3:78789491-78789492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377218854	chr3:78789550-78789551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202099423	chr3:78789591-78789592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10576855	chr3:78789597-78789598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2608020	chr3:78789600-78789601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200450898	chr3:78789601-78789602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537057718	chr3:78789604-78789605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534359965	chr3:78789617-78789618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375267589	chr3:78789627-78789628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202042424	chr3:78789628-78789629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61174600	chr3:78789631-78789632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556720470	chr3:78789652-78789653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550596263	chr3:78789683-78789684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374290092	chr3:78789684-78789685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539185094	chr3:78789685-78789686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553119051	chr3:78789711-78789712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374901486	chr3:78789725-78789726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57373402	chr3:78789747-78789748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190697194	chr3:78789762-78789763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368748445	chr3:78789778-78789779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144522273	chr3:78789783-78789784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182465627	chr3:78789813-78789814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146414961	chr3:78789889-78789890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149027984	chr3:78789890-78789891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559560162	chr3:78789901-78789902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555697968	chr3:78789903-78789904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375935123	chr3:78789915-78789916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6774609	chr3:78789920-78789921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568333465	chr3:78789962-78789963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	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
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78772000-78792200	Weak transcription	HepG2	liver
2	chr3:78783200-78797000	Weak transcription	Fetal Lung	lung
3	chr3:78783800-78803400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:78787400-78791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:78787400-78802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:78787400-78814800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:78787600-78791200	Weak transcription	Fetal Brain Female	brain
8	chr3:78787600-78792600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:78787600-78794200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:78787800-78791800	Weak transcription	HSMM	muscle
11	chr3:78787800-78800000	Weak transcription	HMEC	breast
12	chr3:78788000-78791400	Weak transcription	Fetal Brain Male	brain
13	chr3:78788000-78796800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:78788400-78790800	Weak transcription	HUVEC	blood vessel
15	chr3:78788400-78803400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:78788800-78802600	Weak transcription	NH-A	brain
17	chr3:78791200-78792800	Enhancers	Fetal Brain Female	brain
18	chr3:78791200-78793200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:78791400-78793200	Enhancers	Fetal Brain Male	brain
20	chr3:78792200-78796400	Strong transcription	HepG2	liver
21	chr3:78792600-78793600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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