Variant report

Variant	esv3451577
Chromosome Location	chr2:152198740-152198952
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	chr2:152198814..152201098-chr2:152222504..152224962,2	K562	blood:
2	chr2:152198812..152201317-chr2:152265410..152268112,2	K562	blood:

Variant related genes	Relation type
ENSG00000080345	chromatin interactions
ENSG00000264684	chromatin interactions
ENSG00000123610	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555719414	chr2:152198763-152198764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576035595	chr2:152198812-152198813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541552634	chr2:152198837-152198838	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs11678951	chr2:152198848-152198849	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs527853108	chr2:152198878-152198879	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs555960152	chr2:152198913-152198914	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs113292489	chr2:152198914-152198915	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs12475513	chr2:152198915-152198916	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533643654	chr2:152198920-152198921	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs551937933	chr2:152198921-152198922	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs187361783	chr2:152198925-152198926	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569939207	chr2:152198926-152198927	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs529295905	chr2:152198939-152198940	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs13394301	chr2:152198950-152198951	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549389988	chr2:152198952-152198953	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152196600-152204000	Weak transcription	H9 Cell Line	embryonic stem cell

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