Variant report

Variant	esv3431002
Chromosome Location	chr8:51293424-51295422
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	chr8:51293479-51293710	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:51293521-51293731	A549	lung:	n/a	n/a
3	CEBPB	chr8:51295240-51295364	HepG2	liver:	n/a	chr8:51295254-51295263 chr8:51295252-51295263 chr8:51295254-51295265
4	CEBPB	chr8:51295153-51295450	A549	lung:	n/a	chr8:51295254-51295263 chr8:51295252-51295263 chr8:51295254-51295265
5	FAM48A	chr8:51293708-51293823	GM12878	blood:	n/a	n/a
6	PRDM1	chr8:51293393-51293653	Hela-S3	cervix:	n/a	chr8:51293480-51293493 chr8:51293480-51293489 chr8:51293479-51293493 chr8:51293478-51293493
7	STAT3	chr8:51295011-51295066	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-6	chr8:51294466-51294835	ENSG00000253849.1
2	lnc-C8orf22-6	chr8:51293575-51293638	ENSG00000253849.1

Variant related genes	Relation type
ENSG00000253849	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190461167	chr8:51293445-51293446	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577520643	chr8:51293483-51293484	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544431036	chr8:51293506-51293507	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376366956	chr8:51293518-51293519	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7823310	chr8:51293538-51293539	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141945382	chr8:51293539-51293540	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559747713	chr8:51293605-51293606	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs527538676	chr8:51293644-51293645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551896111	chr8:51293672-51293673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150234104	chr8:51293680-51293681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34941632	chr8:51293722-51293723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549682307	chr8:51293774-51293775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543470959	chr8:51293776-51293777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368241896	chr8:51293802-51293803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377021416	chr8:51293804-51293805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568359780	chr8:51293812-51293813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372860647	chr8:51293846-51293847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535412005	chr8:51293851-51293852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182016984	chr8:51293917-51293918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566912021	chr8:51293922-51293923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534141929	chr8:51293963-51293964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7845433	chr8:51293989-51293990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535494677	chr8:51294043-51294044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577382306	chr8:51294071-51294072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544803206	chr8:51294115-51294116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372674229	chr8:51294119-51294120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187058917	chr8:51294122-51294123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556510781	chr8:51294151-51294152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139362985	chr8:51294152-51294153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67315607	chr8:51294153-51294154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34872307	chr8:51294154-51294155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34088893	chr8:51294156-51294157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55881205	chr8:51294167-51294168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35613933	chr8:51294178-51294179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143286306	chr8:51294190-51294191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199655421	chr8:51294201-51294202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56271555	chr8:51294228-51294229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34372775	chr8:51294229-51294230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72241933	chr8:51294238-51294239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397691339	chr8:51294240-51294241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542208648	chr8:51294257-51294258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566460561	chr8:51294261-51294262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560406426	chr8:51294285-51294286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192399410	chr8:51294289-51294290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535501506	chr8:51294341-51294342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369437107	chr8:51294342-51294343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71233491	chr8:51294355-51294356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35935860	chr8:51294396-51294397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530776565	chr8:51294397-51294398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35153862	chr8:51294398-51294399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51292600-51293800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51292800-51294000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:51293200-51293800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:51293200-51293800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:51293400-51293600	Enhancers	Fetal Intestine Small	intestine
6	chr8:51293800-51299200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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