Variant report

Variant	nsv1014337
Chromosome Location	chr2:52739028-52759103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 715 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565177394	chr2:52739062-52739063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551745601	chr2:52739084-52739085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10209599	chr2:52739102-52739103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189647164	chr2:52739126-52739127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561450934	chr2:52739132-52739133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376975518	chr2:52739142-52739143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151157657	chr2:52739165-52739166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74429579	chr2:52739187-52739188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371538320	chr2:52739218-52739219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563500935	chr2:52739219-52739220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374901984	chr2:52739230-52739231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532563322	chr2:52739239-52739240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552478951	chr2:52739268-52739269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563714591	chr2:52739329-52739330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566225382	chr2:52739347-52739348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533797997	chr2:52739428-52739429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181572903	chr2:52739448-52739449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369333388	chr2:52739466-52739467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567356422	chr2:52739472-52739473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536309396	chr2:52739478-52739479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372496195	chr2:52739481-52739482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375096701	chr2:52739502-52739503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576354788	chr2:52739534-52739535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187006251	chr2:52739623-52739624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139153495	chr2:52739643-52739644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572213798	chr2:52739657-52739658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541437920	chr2:52739667-52739668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75877274	chr2:52739696-52739697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574886991	chr2:52739735-52739736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577396460	chr2:52739738-52739739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190999126	chr2:52739739-52739740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563419729	chr2:52739750-52739751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369618358	chr2:52739763-52739764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532601848	chr2:52739771-52739772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181482032	chr2:52739782-52739783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546103605	chr2:52739801-52739802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528731049	chr2:52739805-52739806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547375738	chr2:52739807-52739808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186492706	chr2:52739824-52739825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529713354	chr2:52739830-52739831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79915587	chr2:52739831-52739832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562271653	chr2:52739854-52739855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189623104	chr2:52739862-52739863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531302107	chr2:52739865-52739866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563784859	chr2:52739868-52739869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149922767	chr2:52739875-52739876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571117271	chr2:52739879-52739880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527435965	chr2:52739881-52739882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528150858	chr2:52739884-52739885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564959176	chr2:52739913-52739914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52736600-52739800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:52736600-52746600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:52739800-52740200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:52746400-52746600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:52746400-52746800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:52746600-52746800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:52746600-52747600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:52746600-52748400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:52746800-52747200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:52746800-52747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:52746800-52748400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:52747200-52748000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:52747200-52748200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:52747200-52748400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:52747400-52747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:52747400-52748000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:52747600-52748000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:52747600-52748000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:52747600-52748400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:52748200-52749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:52748400-52749400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:52749200-52749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:52749400-52749600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:52754000-52754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:52754600-52758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:52758600-52760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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