Variant report

Variant	nsv515558
Chromosome Location	chr2:76337346-76337737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17012180	chr2:76337346-76337347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528511320	chr2:76337358-76337359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188795357	chr2:76337392-76337393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568426867	chr2:76337395-76337396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535561374	chr2:76337452-76337453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192347889	chr2:76337464-76337465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568755854	chr2:76337536-76337537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539337724	chr2:76337627-76337628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377037037	chr2:76337652-76337653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10195421	chr2:76337715-76337716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs317290	chr2:76337737-76337738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76332200-76337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76334400-76338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:76334800-76337600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:76336200-76337600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:76336200-76338600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:76337400-76337800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:76337600-76337800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:76337600-76338000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:76337600-76339200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:76337600-76339200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:76337600-76339200	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links