Variant report

Variant	esv3396836
Chromosome Location	chr3:50723339-50723677
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	chr3:50607067..50609858-chr3:50721017..50723839,2	K562	blood:

Variant related genes	Relation type
ENSG00000088543	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1843073	chr3:50723398-50723399	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141587294	chr3:50723419-50723420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188093157	chr3:50723436-50723437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560285017	chr3:50723438-50723439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527639884	chr3:50723442-50723443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576965379	chr3:50723498-50723499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs193273376	chr3:50723506-50723507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146212592	chr3:50723565-50723566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139244885	chr3:50723617-50723618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142130098	chr3:50723618-50723619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571453656	chr3:50723619-50723620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532295051	chr3:50723623-50723624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185417259	chr3:50723673-50723674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
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
small cell lung cancer	20016488	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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	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
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50713200-50727600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:50714600-50725000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:50715200-50724800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:50715800-50724600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:50717400-50724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:50717400-50724600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:50721400-50724800	Weak transcription	HSMM	muscle
8	chr3:50722200-50724600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:50723000-50725000	Weak transcription	Brain Substantia Nigra	brain
10	chr3:50723000-50736800	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:50723200-50724600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:50723200-50724800	Weak transcription	Brain Angular Gyrus	brain

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