Variant report

Variant	esv10799
Chromosome Location	chr3:85878639-85884972
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	GATA3	chr3:85882973-85883112	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr3:85884219-85884318	MCF10A-Er-Src	breast:	n/a	n/a
3	WRNIP1	chr3:85878823-85878960	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:85877448..85879251-chr3:85882149..85884941,2	K562	blood:
2	chr3:85877448..85879251-chr3:85882149..85884941,2	K562	blood:

Variant related genes	Relation type
CADM2-AS2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543371356	chr3:85878884-85878885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184500011	chr3:85878912-85878913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs188074692	chr3:85878916-85878917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs367756238	chr3:85878932-85878933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532114736	chr3:85878952-85878953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540215133	chr3:85878956-85878957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376040652	chr3:85884041-85884042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557601913	chr3:85884051-85884052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138934911	chr3:85884079-85884080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536600802	chr3:85884082-85884083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186470486	chr3:85884118-85884119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573701599	chr3:85884120-85884121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189288654	chr3:85884127-85884128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13078807	chr3:85884150-85884151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
15	rs578200664	chr3:85884151-85884152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545740048	chr3:85884153-85884154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544215243	chr3:85884187-85884188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530945142	chr3:85884188-85884189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116020220	chr3:85884198-85884199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181070748	chr3:85884216-85884217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370538861	chr3:85884230-85884231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114616854	chr3:85884250-85884251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565568305	chr3:85884261-85884262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532925662	chr3:85884268-85884269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149411123	chr3:85884305-85884306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185278960	chr3:85884311-85884312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191331876	chr3:85884314-85884315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374578695	chr3:85884332-85884333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145764327	chr3:85884348-85884349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73845687	chr3:85884379-85884380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369669010	chr3:85884464-85884465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80094782	chr3:85884479-85884480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79655202	chr3:85884481-85884482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371945026	chr3:85884493-85884494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77911417	chr3:85884557-85884558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553075160	chr3:85884609-85884610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578227428	chr3:85884684-85884685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539196739	chr3:85884719-85884720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557689733	chr3:85884746-85884747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575895892	chr3:85884762-85884763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543299732	chr3:85884839-85884840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377757726	chr3:85884871-85884872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561161402	chr3:85884902-85884903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573170934	chr3:85884904-85884905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148309675	chr3:85884914-85884915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72114709	chr3:85884915-85884916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60751030	chr3:85884926-85884927	Enhancers	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85884000-85884200	Enhancers	Brain Hippocampus Middle	brain
2	chr3:85884200-85884800	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:85884800-85885400	Enhancers	Brain Hippocampus Middle	brain

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