Variant report

Variant	esv3364822
Chromosome Location	chr3:56456787-56457068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181076757	chr3:56456792-56456793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6782671	chr3:56456793-56456794	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574886587	chr3:56456806-56456807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143154658	chr3:56456847-56456848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563994099	chr3:56456870-56456871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533267480	chr3:56456908-56456909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540018871	chr3:56456915-56456916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35302238	chr3:56456946-56456947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560318471	chr3:56456999-56457000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529104590	chr3:56457050-56457051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	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
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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 mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56436600-56457400	Weak transcription	Pancreas	Pancrea
2	chr3:56445800-56461800	Weak transcription	Fetal Brain Female	brain
3	chr3:56447400-56469200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:56449000-56460400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:56450000-56467800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:56450000-56469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:56456200-56456800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:56456200-56456800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:56456200-56456800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:56456400-56456800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:56456400-56456800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:56456400-56479600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:56456600-56456800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:56456600-56456800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:56456600-56457000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:56456600-56457400	Weak transcription	Ovary	ovary
17	chr3:56456600-56465400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:56456600-56467400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:56456800-56467000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:56456800-56467400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:56456800-56467400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:56456800-56467400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:56456800-56467600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:56456800-56468000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:56456800-56468400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:56457000-56457200	Enhancers	Fetal Heart	heart

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