Variant report

Variant	esv3337703
Chromosome Location	chr3:86057412-86059610
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	chr3:86057128-86057450	Hela-S3	cervix:	n/a	chr3:86057313-86057326
2	CUX1	chr3:86058674-86058735	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:86058671-86058770	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:86057864-86057896	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr3:86057599-86057772	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PRKRIRP2	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181887905	chr3:86057448-86057449	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs79163264	chr3:86057477-86057478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552521813	chr3:86057524-86057525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138859905	chr3:86057553-86057554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372385358	chr3:86057554-86057555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377022973	chr3:86057570-86057571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186095030	chr3:86057613-86057614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs527746924	chr3:86057649-86057650	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538306130	chr3:86057658-86057659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111906497	chr3:86057662-86057663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs557532007	chr3:86057679-86057680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575743550	chr3:86057680-86057681	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs141957548	chr3:86057781-86057782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552761463	chr3:86057799-86057800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554947276	chr3:86057848-86057849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573457007	chr3:86057852-86057853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77742659	chr3:86057869-86057870	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565242115	chr3:86057929-86057930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374758105	chr3:86057968-86057969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532657856	chr3:86057979-86057980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564270601	chr3:86058004-86058005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563540895	chr3:86058013-86058014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530603543	chr3:86058036-86058037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549286598	chr3:86058059-86058060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145617078	chr3:86058070-86058071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12635434	chr3:86058078-86058079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374778183	chr3:86058146-86058147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13340105	chr3:86058211-86058212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs3042197	chr3:86058242-86058243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576933975	chr3:86058243-86058244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540979545	chr3:86058244-86058245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34106748	chr3:86058248-86058249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71801812	chr3:86058250-86058251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398071883	chr3:86058258-86058259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201953672	chr3:86058259-86058260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538390142	chr3:86058262-86058263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200986285	chr3:86058263-86058264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556769681	chr3:86058264-86058265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375480672	chr3:86058296-86058297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374153893	chr3:86058297-86058298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569467365	chr3:86058299-86058300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111325694	chr3:86058308-86058309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62263317	chr3:86058310-86058311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4053703	chr3:86058359-86058360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10693202	chr3:86058360-86058361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386397251	chr3:86058367-86058368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397814079	chr3:86058368-86058369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112882383	chr3:86058369-86058370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555111729	chr3:86058380-86058381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200787239	chr3:86058382-86058383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86040400-86064000	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:86056800-86057600	Enhancers	Colon Smooth Muscle	Colon

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