Variant report

Variant	nsv1007229
Chromosome Location	chr2:51689306-51721377
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	chr2:51687766..51690172-chr2:51690556..51692206,2	K562	blood:
2	chr2:51687766..51690172-chr2:51690556..51692206,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182893886	chr2:51692606-51692607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13407230	chr2:51692637-51692638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549646810	chr2:51692665-51692666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13407313	chr2:51692672-51692673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538423842	chr2:51692717-51692718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553943083	chr2:51692749-51692750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571999782	chr2:51692750-51692751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193288641	chr2:51692774-51692775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554745732	chr2:51692811-51692812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576093046	chr2:51692815-51692816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs994132	chr2:51692825-51692826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556867370	chr2:51692826-51692827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373235059	chr2:51692828-51692829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545229492	chr2:51692830-51692831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs994133	chr2:51692841-51692842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28957393	chr2:51692876-51692877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542700664	chr2:51692890-51692891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150089687	chr2:51692896-51692897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531571965	chr2:51692905-51692906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549782273	chr2:51692909-51692910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571413276	chr2:51692937-51692938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562766702	chr2:51692952-51692953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569688637	chr2:51692956-51692957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374584496	chr2:51692992-51692993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537681765	chr2:51699205-51699206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186895609	chr2:51699215-51699216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558752103	chr2:51699232-51699233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543531423	chr2:51699236-51699237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373194297	chr2:51699281-51699282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372109821	chr2:51699284-51699285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534973097	chr2:51699325-51699326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148746002	chr2:51699334-51699335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34260770	chr2:51699372-51699373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370523807	chr2:51699415-51699416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2178275	chr2:51699452-51699453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116668298	chr2:51699482-51699483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541748349	chr2:51699527-51699528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557256153	chr2:51699561-51699562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72887395	chr2:51699578-51699579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576040591	chr2:51699596-51699597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543508504	chr2:51699598-51699599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573160900	chr2:51699599-51699600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186448260	chr2:51702207-51702208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6739534	chr2:51702265-51702266	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs556470750	chr2:51702267-51702268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190861496	chr2:51702273-51702274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77900469	chr2:51702285-51702286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144723112	chr2:51702296-51702297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572216006	chr2:51702301-51702302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80190082	chr2:51715210-51715211	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51692600-51693000	Enhancers	Fetal Stomach	stomach
2	chr2:51699200-51699600	Enhancers	Adipose Nuclei	Adipose
3	chr2:51702200-51702400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:51715200-51716000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:51717800-51718200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:51718000-51718200	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links