Variant report

Variant	esv1811059
Chromosome Location	chr2:183086478-183091601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 51 )

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	rs11690832	chr2:183086478-183086479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150644974	chr2:183086482-183086483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191415327	chr2:183086494-183086495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542674867	chr2:183086495-183086496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542359606	chr2:183086502-183086503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183197919	chr2:183086520-183086521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572070651	chr2:183086534-183086535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562480364	chr2:183086538-183086539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565155564	chr2:183086558-183086559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188509574	chr2:183086612-183086613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575613398	chr2:183086616-183086617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532711788	chr2:183086621-183086622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577709369	chr2:183086630-183086631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544651458	chr2:183086635-183086636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6741055	chr2:183086648-183086649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563553089	chr2:183086667-183086668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192914675	chr2:183086678-183086679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559419692	chr2:183086704-183086705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529099172	chr2:183086763-183086764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552616972	chr2:183086764-183086765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183102331	chr2:183086830-183086831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559268792	chr2:183086833-183086834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6759450	chr2:183086884-183086885	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547484812	chr2:183086895-183086896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187693957	chr2:183086971-183086972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546894460	chr2:183087009-183087010	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192608462	chr2:183087013-183087014	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113363972	chr2:183087067-183087068	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550061951	chr2:183087110-183087111	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570299384	chr2:183087141-183087142	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535685296	chr2:183087184-183087185	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555958497	chr2:183087233-183087234	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572524058	chr2:183087284-183087285	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6744832	chr2:183087293-183087294	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557877375	chr2:183087352-183087353	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7567112	chr2:183087394-183087395	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543414386	chr2:183087406-183087407	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563450260	chr2:183087447-183087448	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549440158	chr2:183087462-183087463	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58684572	chr2:183087463-183087464	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397939695	chr2:183087471-183087472	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34461180	chr2:183087503-183087504	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573913950	chr2:183087543-183087544	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569281309	chr2:183087544-183087545	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183608715	chr2:183087547-183087548	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139733331	chr2:183087617-183087618	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189332180	chr2:183087671-183087672	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564196273	chr2:183087717-183087718	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192832629	chr2:183087719-183087720	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184782040	chr2:183087731-183087732	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183065800-183087600	Weak transcription	Aorta	Aorta
2	chr2:183065800-183087600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:183071600-183086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:183083800-183086800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:183084400-183090600	Weak transcription	Fetal Kidney	kidney
6	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
7	chr2:183085400-183086600	Enhancers	Fetal Brain Male	brain
8	chr2:183085400-183087000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:183085800-183086600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:183086000-183086600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:183086000-183086600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:183086200-183086800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:183086400-183088800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:183086400-183089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:183086600-183087000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:183086800-183087000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:183086800-183088400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:183086800-183088400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:183087000-183087400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr2:183087000-183088000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:183087000-183088400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:183087400-183089800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:183087600-183088000	Strong transcription	Aorta	Aorta
25	chr2:183087600-183088000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
27	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:183088400-183088800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:183088400-183091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:183088400-183092000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:183088800-183092600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:183089800-183090000	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:183091400-183093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links