Variant report

Variant	esv1837825
Chromosome Location	chr3:80054997-80064020
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	chr3:80047881..80050962-chr3:80053550..80056589,5	MCF-7	breast:
2	chr3:80048756..80050849-chr3:80053842..80055880,2	MCF-7	breast:

Extended variants
information (count: 321 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9825395	chr3:80054997-80054998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375402047	chr3:80055041-80055042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528845156	chr3:80055062-80055063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115344666	chr3:80055071-80055072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563213593	chr3:80055106-80055107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13324017	chr3:80055125-80055126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139326389	chr3:80055153-80055154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571716461	chr3:80055163-80055164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9825862	chr3:80055238-80055239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545020735	chr3:80055243-80055244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545810902	chr3:80055249-80055250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72897308	chr3:80055276-80055277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536287322	chr3:80055282-80055283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543064613	chr3:80055287-80055288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73126258	chr3:80055311-80055312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575188141	chr3:80055319-80055320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537732562	chr3:80055341-80055342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188716263	chr3:80055380-80055381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577734666	chr3:80055435-80055436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375646241	chr3:80055443-80055444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540326102	chr3:80055455-80055456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528846371	chr3:80055542-80055543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573767727	chr3:80055578-80055579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148708298	chr3:80055662-80055663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191950472	chr3:80055669-80055670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562443510	chr3:80055677-80055678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149613042	chr3:80055684-80055685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559574759	chr3:80055693-80055694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373317235	chr3:80055790-80055791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551760965	chr3:80055800-80055801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147287401	chr3:80055857-80055858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140932982	chr3:80055869-80055870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144894132	chr3:80055877-80055878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571420340	chr3:80055952-80055953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565001819	chr3:80055989-80055990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536326112	chr3:80056011-80056012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549796624	chr3:80056018-80056019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534131852	chr3:80056051-80056052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549117823	chr3:80056052-80056053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569679128	chr3:80056095-80056096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538162887	chr3:80056143-80056144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80095036	chr3:80056149-80056150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144291139	chr3:80056211-80056212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148397391	chr3:80056249-80056250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577775235	chr3:80056258-80056259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537252687	chr3:80056259-80056260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533784849	chr3:80056348-80056349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374793874	chr3:80056349-80056350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73126261	chr3:80056359-80056360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542712581	chr3:80056365-80056366	Weak transcription	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80054600-80055200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:80054800-80055200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:80055200-80066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:80057600-80058200	Enhancers	Fetal Heart	heart
5	chr3:80058200-80059200	Weak transcription	Fetal Heart	heart
6	chr3:80059200-80060000	Enhancers	Fetal Heart	heart

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