Variant report

Variant	esv3406593
Chromosome Location	chr3:46780398-46782324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:46780720-46780724	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:46780721-46781004	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:46781581-46781781	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:46780834-46780914	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46780631..46782178-chr3:46786371..46787877,2	K562	blood:
2	chr3:46780314..46782174-chr3:46791450..46793098,2	K562	blood:

Variant related genes	Relation type
PRSS46	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6808374	chr3:46780424-46780425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78175662	chr3:46780451-46780452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9865136	chr3:46780519-46780520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570327654	chr3:46780525-46780526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58973116	chr3:46780547-46780548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs190915736	chr3:46780570-46780571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567947132	chr3:46780642-46780643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7652302	chr3:46780666-46780667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536697572	chr3:46780746-46780747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377567855	chr3:46780752-46780753	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs34063354	chr3:46780761-46780762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs370888989	chr3:46780793-46780794	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554655367	chr3:46780803-46780804	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs146872469	chr3:46780837-46780838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112867019	chr3:46780875-46780876	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539546234	chr3:46780925-46780926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184058439	chr3:46780932-46780933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs113219602	chr3:46780981-46780982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188216837	chr3:46781013-46781014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562440393	chr3:46781031-46781032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573944188	chr3:46781065-46781066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544642065	chr3:46781093-46781094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562546598	chr3:46781105-46781106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6809112	chr3:46781151-46781152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs551481704	chr3:46781180-46781181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140736558	chr3:46781220-46781221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115507051	chr3:46781221-46781222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115394858	chr3:46781230-46781231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6801048	chr3:46781237-46781238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs61333746	chr3:46781282-46781283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs75876996	chr3:46781303-46781304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568889139	chr3:46781326-46781327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192053598	chr3:46781329-46781330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182985927	chr3:46781353-46781354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566938934	chr3:46781367-46781368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187114057	chr3:46781392-46781393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191229368	chr3:46781490-46781491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574229017	chr3:46781574-46781575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113823456	chr3:46781575-46781576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556109714	chr3:46781576-46781577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371852123	chr3:46781606-46781607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs183516131	chr3:46781624-46781625	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs545082605	chr3:46781630-46781631	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560253998	chr3:46781649-46781650	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs149192292	chr3:46781674-46781675	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs544859085	chr3:46781703-46781704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs6803880	chr3:46781717-46781718	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs77151660	chr3:46781769-46781770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
49	rs529150020	chr3:46781781-46781782	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs6803972	chr3:46781782-46781783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
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
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46744000-46792200	Weak transcription	Right Atrium	heart
2	chr3:46769000-46792400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:46779200-46782000	Weak transcription	Left Ventricle	heart
4	chr3:46779400-46795400	Weak transcription	Spleen	Spleen
5	chr3:46779400-46799600	Weak transcription	Pancreas	Pancrea
6	chr3:46779600-46780400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:46779800-46792800	Weak transcription	Thymus	Thymus
8	chr3:46780800-46785000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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