Variant report

Variant	esv3449699
Chromosome Location	chr3:53673112-53677010
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	chr3:53674896..53676899-chr3:53679106..53681380,2	K562	blood:
2	chr3:53665440..53667601-chr3:53673312..53674885,2	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs542415925	chr3:53673141-53673142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186843379	chr3:53673157-53673158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115087009	chr3:53673195-53673196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192139766	chr3:53673239-53673240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563184429	chr3:53673246-53673247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578258760	chr3:53673263-53673264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532124347	chr3:53673290-53673291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184033319	chr3:53673395-53673396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559569837	chr3:53673398-53673399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62251934	chr3:53673432-53673433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187775573	chr3:53673444-53673445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548015523	chr3:53673459-53673460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2926559	chr3:53673463-53673464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372433454	chr3:53673475-53673476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530955723	chr3:53673492-53673493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563247329	chr3:53673494-53673495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369185430	chr3:53673513-53673514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145976587	chr3:53673523-53673524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189894139	chr3:53673524-53673525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553414626	chr3:53673532-53673533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192924812	chr3:53673548-53673549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567121262	chr3:53673550-53673551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182492363	chr3:53673565-53673566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556026605	chr3:53673627-53673628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575907212	chr3:53673643-53673644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201765832	chr3:53673664-53673665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373193882	chr3:53673665-53673666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375097088	chr3:53673679-53673680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1906537	chr3:53673705-53673706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556977692	chr3:53673708-53673709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34802409	chr3:53673715-53673716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2926558	chr3:53673728-53673729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186859956	chr3:53673736-53673737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150039029	chr3:53673798-53673799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528396098	chr3:53673800-53673801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541716265	chr3:53673820-53673821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144359188	chr3:53673828-53673829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13059151	chr3:53673860-53673861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550795844	chr3:53673868-53673869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570899357	chr3:53673875-53673876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191771513	chr3:53673876-53673877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60991859	chr3:53673887-53673888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397877340	chr3:53673888-53673889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34925431	chr3:53673908-53673909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547007759	chr3:53673958-53673959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566850938	chr3:53673996-53673997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552347317	chr3:53674086-53674087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185146782	chr3:53674088-53674089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556087800	chr3:53674107-53674108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2633712	chr3:53674140-53674141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53666400-53681400	Weak transcription	Fetal Lung	lung
3	chr3:53667600-53680600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:53670600-53674800	Weak transcription	Fetal Intestine Small	intestine
5	chr3:53670600-53676400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:53672600-53674200	Enhancers	Stomach Mucosa	stomach
7	chr3:53674200-53675200	Enhancers	Esophagus	oesophagus
8	chr3:53674800-53678000	Strong transcription	Fetal Intestine Small	intestine
9	chr3:53675200-53677600	Weak transcription	Esophagus	oesophagus
10	chr3:53676000-53677200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:53676200-53678000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:53676400-53676800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:53676800-53688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:53677000-53677200	Enhancers	Pancreatic Islets	Pancreatic Islet

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