Variant report

Variant	esv3414167
Chromosome Location	chr2:116189682-116194280
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	CTCF	chr2:116190360-116190510	K562	blood:	n/a	n/a
2	MAZ	chr2:116194056-116194069	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:116190813-116191190	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr2:116192047-116192247	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
DPP10	TF binding region

Extended variants
information (count: 181 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs561053210	chr2:116189716-116189717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530062198	chr2:116189765-116189766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568563346	chr2:116189777-116189778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113309250	chr2:116189796-116189797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192408333	chr2:116189864-116189865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1712005	chr2:116189892-116189893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572535649	chr2:116189893-116189894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552007942	chr2:116189947-116189948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565390775	chr2:116190045-116190046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183833204	chr2:116190077-116190078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553986530	chr2:116190107-116190108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188107439	chr2:116190160-116190161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181451756	chr2:116190182-116190183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556803420	chr2:116190207-116190208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371395325	chr2:116190232-116190233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376228916	chr2:116190233-116190234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369248512	chr2:116190235-116190236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200805637	chr2:116190236-116190237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377628077	chr2:116190237-116190238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576378631	chr2:116190239-116190240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545336698	chr2:116190241-116190242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59844767	chr2:116190275-116190276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs70941060	chr2:116190276-116190277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184846413	chr2:116190336-116190337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572611176	chr2:116190399-116190400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541532791	chr2:116190428-116190429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77439469	chr2:116190431-116190432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551576749	chr2:116190441-116190442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543368048	chr2:116190460-116190461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558939726	chr2:116190466-116190467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371065625	chr2:116190479-116190480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563571419	chr2:116190548-116190549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370574159	chr2:116190567-116190568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552111077	chr2:116190603-116190604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558915816	chr2:116190617-116190618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190122679	chr2:116190648-116190649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528220979	chr2:116190724-116190725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2030440	chr2:116190725-116190726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116717349	chr2:116190753-116190754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536810539	chr2:116190768-116190769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138947314	chr2:116190800-116190801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143796161	chr2:116190835-116190836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577077822	chr2:116190879-116190880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550593092	chr2:116190910-116190911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79081556	chr2:116190964-116190965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2030441	chr2:116190983-116190984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374155324	chr2:116191002-116191003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572470082	chr2:116191003-116191004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1717055	chr2:116191027-116191028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555060874	chr2:116191030-116191031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116189400-116198800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:116190200-116190600	Enhancers	Brain Angular Gyrus	brain

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