Variant report

Variant	esv3367734
Chromosome Location	chr3:46485577-46486322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:46486190-46486296	MCF-7	breast:	n/a	n/a
2	ZNF143	chr3:46485671-46485677	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46484352..46487691-chr3:46518831..46521127,3	K562	blood:
2	chr3:46484040..46488296-chr3:46490659..46494329,4	MCF-7	breast:
3	chr3:46484746..46488003-chr3:46490448..46495431,4	K562	blood:
4	chr3:46485067..46487266-chr3:46492253..46493866,2	K562	blood:
5	chr3:46479732..46482447-chr3:46484213..46487607,4	K562	blood:

No data

Variant related genes	Relation type
LTF	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550730490	chr3:46485613-46485614	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34409943	chr3:46485631-46485632	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569132945	chr3:46485706-46485707	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72622926	chr3:46485773-46485774	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551645646	chr3:46485873-46485874	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113812049	chr3:46485874-46485875	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150744266	chr3:46485900-46485901	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34940840	chr3:46485955-46485956	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76834810	chr3:46485959-46485960	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67168544	chr3:46485960-46485961	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574014992	chr3:46485982-46485983	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369115645	chr3:46486024-46486025	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376676525	chr3:46486059-46486060	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149485598	chr3:46486096-46486097	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111900245	chr3:46486100-46486101	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557146683	chr3:46486112-46486113	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575518972	chr3:46486130-46486131	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565662388	chr3:46486146-46486147	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539121808	chr3:46486149-46486150	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192153541	chr3:46486176-46486177	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564221143	chr3:46486198-46486199	Strong transcription Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573121533	chr3:46486210-46486211	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112267874	chr3:46486223-46486224	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs143846141	chr3:46486229-46486230	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561740961	chr3:46486237-46486238	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576191370	chr3:46486244-46486245	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs71327066	chr3:46486292-46486293	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550268068	chr3:46486309-46486310	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:46465200-46488800	Weak transcription	Left Ventricle	heart
4	chr3:46465200-46488800	Weak transcription	Right Ventricle	heart
5	chr3:46479600-46487000	Enhancers	Fetal Thymus	thymus
6	chr3:46480200-46504000	Weak transcription	Lung	lung
7	chr3:46481000-46488800	Strong transcription	Spleen	Spleen
8	chr3:46481200-46485800	Weak transcription	Gastric	stomach
9	chr3:46483000-46486800	Weak transcription	Pancreas	Pancrea
10	chr3:46483000-46488600	Weak transcription	Adipose Nuclei	Adipose
11	chr3:46483400-46486800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:46484800-46495000	Weak transcription	Fetal Intestine Small	intestine
13	chr3:46485400-46486200	Enhancers	Primary T cells from cord blood	blood
14	chr3:46485800-46486800	Strong transcription	Gastric	stomach

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