Variant report

Variant	esv3438571
Chromosome Location	chr2:142220782-142222080
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	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:
2	chr2:142219246..142221471-chr2:142222872..142224953,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536556117	chr2:142220815-142220816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556865124	chr2:142220825-142220826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143875241	chr2:142220830-142220831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184352743	chr2:142220866-142220867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538768970	chr2:142220924-142220925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559126452	chr2:142220925-142220926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572436610	chr2:142220963-142220964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541264821	chr2:142220997-142220998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539074711	chr2:142221625-142221626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189450877	chr2:142221640-142221641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13022705	chr2:142221658-142221659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534817001	chr2:142221731-142221732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555012897	chr2:142221771-142221772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62168037	chr2:142221773-142221774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536827872	chr2:142221787-142221788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556878521	chr2:142221817-142221818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112074879	chr2:142221823-142221824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554208554	chr2:142221878-142221879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559095920	chr2:142221903-142221904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572766046	chr2:142221916-142221917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575741077	chr2:142221954-142221955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72989023	chr2:142221957-142221958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551859434	chr2:142221989-142221990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561802007	chr2:142221996-142221997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542966752	chr2:142222059-142222060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111663470	chr2:142222075-142222076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142220600-142221000	Enhancers	Brain Angular Gyrus	brain
2	chr2:142221600-142221800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:142221800-142225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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