Variant report

Variant	esv19617
Chromosome Location	chr2:178678786-178684838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178677924..178679761-chr2:178681434..178684023,2	K562	blood:
2	chr2:178681561..178684546-chr2:178836153..178838637,2	K562	blood:
3	chr2:178677924..178679761-chr2:178681434..178684023,2	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs74460168	chr2:178678792-178678793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13409408	chr2:178678853-178678854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13384016	chr2:178678859-178678860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13409414	chr2:178678873-178678874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73034288	chr2:178678891-178678892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190447651	chr2:178678908-178678909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558894273	chr2:178678922-178678923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140244780	chr2:178678932-178678933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11884289	chr2:178678937-178678938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs578167572	chr2:178678974-178678975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111943118	chr2:178678985-178678986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193027883	chr2:178678991-178678992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201178226	chr2:178679014-178679015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368780289	chr2:178679015-178679016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397754462	chr2:178679018-178679019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555216347	chr2:178679043-178679044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185177900	chr2:178679045-178679046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540826642	chr2:178679049-178679050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6729482	chr2:178679051-178679052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116551433	chr2:178679064-178679065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542301864	chr2:178679069-178679070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145203342	chr2:178679137-178679138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564870846	chr2:178679146-178679147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189837738	chr2:178679165-178679166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6714519	chr2:178679168-178679169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567124665	chr2:178679170-178679171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529882872	chr2:178679171-178679172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546378175	chr2:178679183-178679184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375285839	chr2:178679185-178679186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539122141	chr2:178679187-178679188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551948311	chr2:178679207-178679208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552310090	chr2:178679230-178679231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73034292	chr2:178679243-178679244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538350816	chr2:178679272-178679273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139019987	chr2:178679316-178679317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555148611	chr2:178679436-178679437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113363709	chr2:178679439-178679440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534431181	chr2:178679456-178679457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554385638	chr2:178679501-178679502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181411826	chr2:178679523-178679524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546444784	chr2:178679533-178679534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564739899	chr2:178679573-178679574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565045457	chr2:178679589-178679590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1946813	chr2:178679641-178679642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6715232	chr2:178679647-178679648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560687532	chr2:178679657-178679658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570433752	chr2:178679671-178679672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79541299	chr2:178679673-178679674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1946814	chr2:178679676-178679677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs532318970	chr2:178679680-178679681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178674200-178681600	Weak transcription	Liver	Liver
2	chr2:178681400-178681800	Enhancers	Brain Germinal Matrix	brain
3	chr2:178681600-178682200	Enhancers	Liver	Liver
4	chr2:178683400-178684400	Enhancers	Colon Smooth Muscle	Colon

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