Variant report

Variant	nsv874917
Chromosome Location	chr2:115723034-115788593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 410 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72945854	chr2:115749437-115749438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541192413	chr2:115749439-115749440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs67318469	chr2:115749457-115749458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574596508	chr2:115749518-115749519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78925115	chr2:115749538-115749539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563472640	chr2:115749568-115749569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183200630	chr2:115749570-115749571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570300376	chr2:115749805-115749806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78322315	chr2:115749815-115749816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554206571	chr2:115749890-115749891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186681705	chr2:115749903-115749904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146126074	chr2:115749919-115749920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138997257	chr2:115749934-115749935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535125195	chr2:115749971-115749972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533649691	chr2:115750028-115750029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554762182	chr2:115750039-115750040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547679449	chr2:115750062-115750063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574563323	chr2:115750070-115750071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543296692	chr2:115750076-115750077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs906913	chr2:115750093-115750094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577100300	chr2:115750101-115750102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545361763	chr2:115750118-115750119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558948386	chr2:115750177-115750178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34245669	chr2:115750195-115750196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373385939	chr2:115750262-115750263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376356731	chr2:115750294-115750295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371278596	chr2:115750302-115750303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574995127	chr2:115750303-115750304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189527268	chr2:115750347-115750348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540446096	chr2:115750351-115750352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183345193	chr2:115750438-115750439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550136707	chr2:115750466-115750467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570295257	chr2:115750478-115750479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532877047	chr2:115750501-115750502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187835237	chr2:115750558-115750559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141587054	chr2:115750562-115750563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139017241	chr2:115751082-115751083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149888558	chr2:115751085-115751086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187515282	chr2:115751115-115751116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67544881	chr2:115751142-115751143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71394121	chr2:115751157-115751158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59643647	chr2:115751159-115751160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59593945	chr2:115751177-115751178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs70941018	chr2:115751184-115751185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114762785	chr2:115751216-115751217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140402011	chr2:115751242-115751243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184756768	chr2:115751243-115751244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188298062	chr2:115751262-115751263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376517694	chr2:115751263-115751264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77995149	chr2:115751285-115751286	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
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
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115749400-115749600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:115749800-115750200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:115749800-115750600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:115750000-115750600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:115751000-115757200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:115751400-115751600	Enhancers	Fetal Brain Male	brain
7	chr2:115752400-115752800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:115752800-115756000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:115756000-115756800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:115756800-115757200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:115757200-115757400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:115757200-115757400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:115757400-115759600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:115759600-115759800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:115777000-115777400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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