Variant report

Variant	esv2535484
Chromosome Location	chr2:114841415-114842922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144423316	chr2:114841461-114841462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551804434	chr2:114841482-114841483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554337412	chr2:114841496-114841497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571630979	chr2:114841497-114841498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190204143	chr2:114841534-114841535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534318549	chr2:114841543-114841544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553947778	chr2:114841548-114841549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17706325	chr2:114841557-114841558	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72837239	chr2:114841562-114841563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs156706	chr2:114841673-114841674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs13411647	chr2:114841700-114841701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545254914	chr2:114841716-114841717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181902941	chr2:114841719-114841720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141437820	chr2:114841738-114841739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541145957	chr2:114841781-114841782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560803303	chr2:114841782-114841783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111990464	chr2:114841803-114841804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147021563	chr2:114841811-114841812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549704793	chr2:114841837-114841838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563428079	chr2:114841853-114841854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55909031	chr2:114841890-114841891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111334174	chr2:114841898-114841899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201442102	chr2:114841902-114841903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55846207	chr2:114841916-114841917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532459540	chr2:114841917-114841918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56076332	chr2:114842004-114842005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374246304	chr2:114842007-114842008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113697775	chr2:114842024-114842025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113887661	chr2:114842109-114842110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34303144	chr2:114842113-114842114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113321735	chr2:114842423-114842424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372198775	chr2:114842489-114842490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113028313	chr2:114842527-114842528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552469427	chr2:114842592-114842593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111801169	chr2:114842631-114842632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112559789	chr2:114842695-114842696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368736720	chr2:114842704-114842705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113993190	chr2:114842710-114842711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112979291	chr2:114842735-114842736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556641105	chr2:114842743-114842744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571692596	chr2:114842758-114842759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186985175	chr2:114842828-114842829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527664948	chr2:114842860-114842861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117065767	chr2:114842861-114842862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567646326	chr2:114842877-114842878	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Chronic lymphocytic leukemia	21546498	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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114840400-114842000	Enhancers	Liver	Liver
2	chr2:114841000-114841600	Weak transcription	Pancreas	Pancrea
3	chr2:114841400-114842800	Weak transcription	HepG2	liver
4	chr2:114841600-114841800	Enhancers	Pancreas	Pancrea
5	chr2:114842000-114842400	Weak transcription	Liver	Liver
6	chr2:114842400-114843400	Enhancers	Liver	Liver
7	chr2:114842800-114843000	Enhancers	HepG2	liver

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