Variant report

Variant	esv3438970
Chromosome Location	chr3:56016394-56016684
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	chr3:56003540..56006310-chr3:56015032..56016814,2	MCF-7	breast:
2	chr3:56007673..56009341-chr3:56015125..56017166,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs734941	chr3:56016399-56016400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147128351	chr3:56016421-56016422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113549097	chr3:56016480-56016481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111375888	chr3:56016501-56016502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140704482	chr3:56016502-56016503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564996188	chr3:56016510-56016511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80243722	chr3:56016512-56016513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527346936	chr3:56016528-56016529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572120560	chr3:56016532-56016533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72383085	chr3:56016597-56016598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs746155	chr3:56016599-56016600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375320664	chr3:56016600-56016601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74970260	chr3:56016603-56016604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183752227	chr3:56016642-56016643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs732255	chr3:56016672-56016673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs187885182	chr3:56016673-56016674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78026891	chr3:56016678-56016679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569894142	chr3:56016682-56016683	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56003800-56017000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:56003800-56023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:56013200-56022200	Weak transcription	Pancreas	Pancrea
4	chr3:56015600-56016600	Weak transcription	Fetal Heart	heart
5	chr3:56015800-56020400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:56015800-56020600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:56016600-56017800	Enhancers	Fetal Heart	heart

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