Variant report

Variant	esv3521148
Chromosome Location	chr2:114526814-114531704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114513854..114516173-chr2:114527301..114529193,2	K562	blood:
2	chr2:114514673..114516598-chr2:114527693..114530348,3	K562	blood:
3	chr2:114511937..114515433-chr2:114525271..114528469,4	MCF-7	breast:
4	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:

Variant related genes	Relation type
ENSG00000115084	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs112791606	chr2:114526821-114526822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551937608	chr2:114526827-114526828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550578841	chr2:114526877-114526878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570336656	chr2:114526932-114526933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571783759	chr2:114526956-114526957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143508089	chr2:114527021-114527022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113740622	chr2:114527029-114527030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180905611	chr2:114527059-114527060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148001321	chr2:114527142-114527143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs59585245	chr2:114527228-114527229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555264500	chr2:114527235-114527236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374661106	chr2:114527254-114527255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57796627	chr2:114527255-114527256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77982009	chr2:114527256-114527257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569182194	chr2:114527258-114527259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs397792841	chr2:114527269-114527270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76194704	chr2:114527270-114527271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369002226	chr2:114527432-114527433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34057085	chr2:114527436-114527437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs80019447	chr2:114527437-114527438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72006639	chr2:114527447-114527448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs398060464	chr2:114527450-114527451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557362137	chr2:114527504-114527505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577133201	chr2:114527508-114527509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184552621	chr2:114527559-114527560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553461129	chr2:114527572-114527573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556395669	chr2:114527622-114527623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569809541	chr2:114527662-114527663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12711787	chr2:114527682-114527683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189943486	chr2:114527683-114527684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531270680	chr2:114527685-114527686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555042800	chr2:114527706-114527707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572041997	chr2:114527775-114527776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373163305	chr2:114527776-114527777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs36111820	chr2:114527791-114527792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10180743	chr2:114527792-114527793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557265599	chr2:114527816-114527817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546300167	chr2:114527833-114527834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566272517	chr2:114527864-114527865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540641763	chr2:114527884-114527885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375302113	chr2:114527894-114527895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187120619	chr2:114527926-114527927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549190780	chr2:114527929-114527930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568944941	chr2:114527948-114527949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115140435	chr2:114527963-114527964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
46	rs114158672	chr2:114527991-114527992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570866954	chr2:114528043-114528044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573391474	chr2:114528076-114528077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543571221	chr2:114528095-114528096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535293728	chr2:114528100-114528101	Weak transcription	Chromatin interactive region	1 gene(s)	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114526800-114529400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:114526800-114529400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114527000-114527400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:114527200-114527800	Enhancers	HepG2	liver
5	chr2:114528800-114529600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:114529400-114529800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:114529400-114529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:114529600-114529800	Enhancers	NHDF-Ad	bronchial
9	chr2:114529800-114534600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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