Variant report

Variant	esv2756807
Chromosome Location	chr8:3564244-3566615
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	chr8:3564711-3564741	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CSMD1	TF binding region

Extended variants
information (count: 242 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17326685	chr8:3564244-3564245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550494856	chr8:3564258-3564259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185430502	chr8:3564266-3564267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567724161	chr8:3564270-3564271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17067083	chr8:3564282-3564283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374120124	chr8:3564287-3564288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571715564	chr8:3564294-3564295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77151525	chr8:3564302-3564303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189487436	chr8:3564303-3564304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557695686	chr8:3564307-3564308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575715277	chr8:3564308-3564309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13269170	chr8:3564314-3564315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73658215	chr8:3564343-3564344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181179436	chr8:3564344-3564345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185534260	chr8:3564371-3564372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386721096	chr8:3564381-3564382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67732872	chr8:3564383-3564384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11997333	chr8:3564384-3564385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188000878	chr8:3564401-3564402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563619360	chr8:3564414-3564415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555135988	chr8:3564428-3564429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530740865	chr8:3564434-3564435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11987544	chr8:3564440-3564441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10095031	chr8:3564443-3564444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528592307	chr8:3564498-3564499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550739871	chr8:3564516-3564517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547118183	chr8:3564537-3564538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571626986	chr8:3564559-3564560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562452244	chr8:3564565-3564566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11986814	chr8:3564568-3564569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs10095166	chr8:3564576-3564577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17067088	chr8:3564589-3564590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11998132	chr8:3564635-3564636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139787921	chr8:3564642-3564643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547593228	chr8:3564659-3564660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573408236	chr8:3564678-3564679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572299816	chr8:3564684-3564685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143491943	chr8:3564695-3564696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552661391	chr8:3564704-3564705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561286381	chr8:3564727-3564728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540905452	chr8:3564730-3564731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10110793	chr8:3564741-3564742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146261571	chr8:3564782-3564783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550236770	chr8:3564802-3564803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60887719	chr8:3564812-3564813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112815220	chr8:3564830-3564831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs33948114	chr8:3564831-3564832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397746269	chr8:3564835-3564836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149924806	chr8:3564882-3564883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180861514	chr8:3564887-3564888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:4 , 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	chr8:3564400-3565800	Enhancers	Fetal Muscle Leg	muscle
3	chr8:3565800-3566200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:3566200-3567000	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links