Variant report

Variant	esv3348008
Chromosome Location	chr2:151434279-151434581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151431784..151434680-chr2:151442066..151443954,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34849534	chr2:151434279-151434280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541251956	chr2:151434310-151434311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547858774	chr2:151434320-151434321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112077418	chr2:151434333-151434334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10930161	chr2:151434434-151434435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187895714	chr2:151434472-151434473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142726282	chr2:151434473-151434474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192140409	chr2:151434480-151434481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556532777	chr2:151434497-151434498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377570189	chr2:151434499-151434500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113351527	chr2:151434524-151434525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185762160	chr2:151434530-151434531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535618879	chr2:151434535-151434536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555618267	chr2:151434551-151434552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151427400-151444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:151430800-151443400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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