Variant report

Variant	esv18414
Chromosome Location	chr8:3566776-3568330
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	GABPA	chr8:3567126-3567248	HepG2	liver:	n/a	n/a
2	MAFK	chr8:3566987-3567157	HepG2	liver:	n/a	n/a
3	MAFK	chr8:3566991-3567197	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:3567361-3567449	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CSMD1	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6981921	chr8:3566780-3566781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6981931	chr8:3566791-3566792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558960718	chr8:3566793-3566794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71521887	chr8:3566802-3566803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375202752	chr8:3566804-3566805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577863035	chr8:3566815-3566816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545023560	chr8:3566817-3566818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563453683	chr8:3566822-3566823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369845752	chr8:3566834-3566835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187761500	chr8:3566840-3566841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6996329	chr8:3566852-3566853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561344322	chr8:3566853-3566854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528630028	chr8:3566892-3566893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547006145	chr8:3566900-3566901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71521888	chr8:3566911-3566912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375443337	chr8:3566930-3566931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144605253	chr8:3566931-3566932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561897512	chr8:3566939-3566940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190844340	chr8:3566945-3566946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569400059	chr8:3566974-3566975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536471264	chr8:3566993-3566994	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183896316	chr8:3566994-3566995	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs74839656	chr8:3567001-3567002	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs79249519	chr8:3567010-3567011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs75484485	chr8:3567016-3567017	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555795584	chr8:3567020-3567021	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531029009	chr8:3567035-3567036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs188800727	chr8:3567076-3567077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545252089	chr8:3567085-3567086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs143792676	chr8:3567104-3567105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112315858	chr8:3567106-3567107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs550800092	chr8:3567107-3567108	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs9285037	chr8:3567109-3567110	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551713247	chr8:3567120-3567121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537321970	chr8:3567123-3567124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs547118175	chr8:3567138-3567139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs192091755	chr8:3567141-3567142	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs9285038	chr8:3567143-3567144	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74824547	chr8:3567171-3567172	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs534568341	chr8:3567176-3567177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs548526189	chr8:3567191-3567192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200229033	chr8:3567201-3567202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs71534365	chr8:3567202-3567203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs77851270	chr8:3567203-3567204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs75091936	chr8:3567204-3567205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62476969	chr8:3567205-3567206	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs56272726	chr8:3567231-3567232	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368046204	chr8:3567232-3567233	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs386721097	chr8:3567235-3567236	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10091302	chr8:3567236-3567237	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3563200-3569400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3566200-3567000	Enhancers	Fetal Muscle Leg	muscle

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