Variant report

Variant	nsv518449
Chromosome Location	chr2:125135589-125142722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552135397	chr2:125139605-125139606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147720356	chr2:125139606-125139607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537773653	chr2:125139648-125139649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554398842	chr2:125139675-125139676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185050141	chr2:125139678-125139679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533731694	chr2:125139750-125139751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554000901	chr2:125139818-125139819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114720262	chr2:125139826-125139827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189565249	chr2:125139827-125139828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142498752	chr2:125139950-125139951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2584358	chr2:125140020-125140021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145890799	chr2:125140053-125140054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527937366	chr2:125140055-125140056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368219554	chr2:125140078-125140079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533368061	chr2:125140096-125140097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532249945	chr2:125140154-125140155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551960652	chr2:125140216-125140217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550298659	chr2:125140254-125140255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568518657	chr2:125140288-125140289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1425743	chr2:125140295-125140296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182099558	chr2:125140330-125140331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201581457	chr2:125140419-125140420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186042924	chr2:125140430-125140431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151162649	chr2:125140437-125140438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553944999	chr2:125140468-125140469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554980250	chr2:125140477-125140478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140123564	chr2:125140488-125140489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539925886	chr2:125140513-125140514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556654589	chr2:125140522-125140523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191106569	chr2:125140529-125140530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576545853	chr2:125140541-125140542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542240083	chr2:125140627-125140628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150294250	chr2:125140632-125140633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181763695	chr2:125140633-125140634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535466591	chr2:125140704-125140705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185339772	chr2:125140733-125140734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564725052	chr2:125140748-125140749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533320475	chr2:125140787-125140788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375387654	chr2:125140813-125140814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545896076	chr2:125140862-125140863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369034097	chr2:125140872-125140873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138111815	chr2:125140887-125140888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114997285	chr2:125140888-125140889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113786329	chr2:125140927-125140928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191179482	chr2:125140946-125140947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552050753	chr2:125140996-125140997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200492979	chr2:125140997-125140998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547328255	chr2:125141008-125141009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552638676	chr2:125141011-125141012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182553507	chr2:125141029-125141030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125139600-125139800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr2:125139800-125140400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:125140400-125141000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:125140600-125141200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:125141000-125142200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:125142400-125142600	Enhancers	H9 Cell Line	embryonic stem cell

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