Variant report

Variant	nsv964350
Chromosome Location	chr2:141670995-141677004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187865458	chr2:141673861-141673862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150886868	chr2:141673869-141673870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76269742	chr2:141673873-141673874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572320660	chr2:141673903-141673904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532704210	chr2:141673998-141673999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552141047	chr2:141674074-141674075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565780705	chr2:141674076-141674077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534760373	chr2:141674084-141674085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555054046	chr2:141674088-141674089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568126387	chr2:141674089-141674090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191252883	chr2:141674101-141674102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1429343	chr2:141674190-141674191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11885718	chr2:141674200-141674201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577195171	chr2:141674212-141674213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546166027	chr2:141674216-141674217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552958529	chr2:141674219-141674220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139366695	chr2:141674229-141674230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541527928	chr2:141674285-141674286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561844927	chr2:141674303-141674304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184965429	chr2:141674307-141674308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543983796	chr2:141674350-141674351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143240045	chr2:141674384-141674385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138644407	chr2:141674404-141674405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs398104771	chr2:141674405-141674406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35253461	chr2:141674407-141674408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201600359	chr2:141674408-141674409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562957356	chr2:141674420-141674421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146695380	chr2:141674514-141674515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140210902	chr2:141674525-141674526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564960036	chr2:141674580-141674581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370110313	chr2:141674586-141674587	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141673800-141674200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:141673800-141674600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:141677000-141677800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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