Variant report

Variant	esv3345718
Chromosome Location	chr2:114150507-114154555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565882282	chr2:114150538-114150539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4849209	chr2:114150631-114150632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547845933	chr2:114150634-114150635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193199167	chr2:114150655-114150656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375807903	chr2:114150708-114150709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4849210	chr2:114150720-114150721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556395136	chr2:114150754-114150755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570193305	chr2:114150809-114150810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538865389	chr2:114150810-114150811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58873988	chr2:114150932-114150933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6704835	chr2:114150940-114150941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537446269	chr2:114150944-114150945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73955027	chr2:114151008-114151009	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554173632	chr2:114151027-114151028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574116731	chr2:114151057-114151058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182181478	chr2:114151073-114151074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28665757	chr2:114151155-114151156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369980759	chr2:114151156-114151157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28658130	chr2:114151200-114151201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545718809	chr2:114151227-114151228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201618797	chr2:114151235-114151236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559580981	chr2:114151288-114151289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528421861	chr2:114151290-114151291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548524039	chr2:114151300-114151301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13411628	chr2:114151304-114151305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs530124616	chr2:114151309-114151310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550203560	chr2:114151318-114151319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111452975	chr2:114151319-114151320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143414013	chr2:114151346-114151347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546091577	chr2:114151354-114151355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183523665	chr2:114151361-114151362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13385481	chr2:114151364-114151365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556770916	chr2:114151390-114151391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554860408	chr2:114151393-114151394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574055270	chr2:114151399-114151400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536693167	chr2:114151400-114151401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13424823	chr2:114151403-114151404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576899843	chr2:114151496-114151497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373010012	chr2:114151586-114151587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373831064	chr2:114151927-114151928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78318021	chr2:114152011-114152012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9679496	chr2:114152071-114152072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9679368	chr2:114152092-114152093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9677249	chr2:114152137-114152138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9679105	chr2:114152269-114152270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10469813	chr2:114152413-114152414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62159965	chr2:114152995-114152996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545956740	chr2:114153463-114153464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559252533	chr2:114153478-114153479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200558418	chr2:114153605-114153606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Malignant peripheral nerve sheath tumor	18522746	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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114148400-114165000	Weak transcription	A549	lung
2	chr2:114149200-114150800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:114151000-114151200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:114154200-114154800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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