Variant report

Variant	esv3394683
Chromosome Location	chr2:186836207-186837255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535938993	chr2:186836215-186836216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11892320	chr2:186836296-186836297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181743079	chr2:186836304-186836305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537671808	chr2:186836338-186836339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572008117	chr2:186836365-186836366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113738731	chr2:186836408-186836409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577474181	chr2:186836415-186836416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541387684	chr2:186836483-186836484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375232919	chr2:186836504-186836505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542765107	chr2:186836513-186836514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13403290	chr2:186836516-186836517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112058042	chr2:186836517-186836518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574930545	chr2:186836518-186836519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201359227	chr2:186836523-186836524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199610231	chr2:186836524-186836525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553358384	chr2:186836532-186836533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35596407	chr2:186836536-186836537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200942455	chr2:186836581-186836582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371045958	chr2:186836582-186836583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375127396	chr2:186836584-186836585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59282719	chr2:186836585-186836586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71014696	chr2:186836588-186836589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57250620	chr2:186836589-186836590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542329971	chr2:186836608-186836609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563835351	chr2:186836609-186836610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs189637719	chr2:186836610-186836611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs3058634	chr2:186836631-186836632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543620525	chr2:186836651-186836652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563922200	chr2:186836715-186836716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs386653496	chr2:186836723-186836724	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533896165	chr2:186836808-186836809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376732003	chr2:186836823-186836824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140480905	chr2:186836888-186836889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547334268	chr2:186836896-186836897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558525617	chr2:186836922-186836923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1580491	chr2:186836937-186836938	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529669246	chr2:186837028-186837029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372487307	chr2:186837045-186837046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569747075	chr2:186837057-186837058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537206936	chr2:186837081-186837082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150422953	chr2:186837089-186837090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183416886	chr2:186837104-186837105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186325082	chr2:186837151-186837152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1580490	chr2:186837190-186837191	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373950706	chr2:186837228-186837229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116364922	chr2:186837235-186837236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186828200-186836800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:186828400-186857400	Weak transcription	Aorta	Aorta
3	chr2:186828800-186867400	Weak transcription	Ovary	ovary
4	chr2:186835600-186840600	Weak transcription	Pancreas	Pancrea
5	chr2:186835800-186836800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:186835800-186836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:186835800-186843400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:186836200-186836600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:186836600-186837200	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr2:186836800-186837000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:186836800-186837200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:186836800-186837200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr2:186836800-186837200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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