Variant report

Variant	esv3342599
Chromosome Location	chr2:173736406-173742004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173741257..173743935-chr2:173744590..173747006,2	K562	blood:
2	chr2:173736851..173738482-chr2:173743498..173745372,2	K562	blood:
3	chr2:173730786..173733369-chr2:173736529..173738665,2	K562	blood:

Extended variants
information (count: 207 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:207 , 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	rs576136327	chr2:173736436-173736437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549852142	chr2:173736456-173736457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569933856	chr2:173736487-173736488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546259549	chr2:173736526-173736527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571508225	chr2:173736761-173736762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538807819	chr2:173736769-173736770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557272809	chr2:173736807-173736808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116189152	chr2:173736812-173736813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536679587	chr2:173736830-173736831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556877004	chr2:173736852-173736853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369990965	chr2:173736862-173736863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376492099	chr2:173736919-173736920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540754756	chr2:173736941-173736942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73977720	chr2:173736947-173736948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577924907	chr2:173736952-173736953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185857477	chr2:173736955-173736956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145758018	chr2:173736998-173736999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534314887	chr2:173737008-173737009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190620226	chr2:173737028-173737029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542870991	chr2:173737081-173737082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560742079	chr2:173737103-173737104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554393378	chr2:173737122-173737123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574325678	chr2:173737181-173737182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371008834	chr2:173737190-173737191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148886827	chr2:173737207-173737208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572500024	chr2:173737254-173737255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377360685	chr2:173737339-173737340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377428963	chr2:173737350-173737351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571000415	chr2:173737352-173737353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143554581	chr2:173737377-173737378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550740827	chr2:173737389-173737390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569568389	chr2:173737406-173737407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536560261	chr2:173737412-173737413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115265508	chr2:173737416-173737417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148021266	chr2:173737437-173737438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540723195	chr2:173737454-173737455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534144296	chr2:173737463-173737464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559136695	chr2:173737535-173737536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142683484	chr2:173737549-173737550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545255388	chr2:173737560-173737561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6747569	chr2:173737578-173737579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183190189	chr2:173737628-173737629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557914368	chr2:173737651-173737652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144847090	chr2:173737693-173737694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561195012	chr2:173737697-173737698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373819507	chr2:173737699-173737700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536292190	chr2:173737718-173737719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539839616	chr2:173737719-173737720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564666432	chr2:173737768-173737769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532062912	chr2:173737804-173737805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
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
Seminomas	18059402	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173726800-173753600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173729200-173737000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:173734400-173747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173736200-173742400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:173736200-173742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:173736200-173742400	Weak transcription	NHEK	skin

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