Variant report

Variant	nsv874093
Chromosome Location	chr2:52057287-52089126
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	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
2	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
3	chr11:63952383..63953021-chr2:52077502..52078002,2	Hela-S3	cervix:
4	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
5	chr2:52069239..52070064-chr8:36656303..36657160,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:52088587-52088626	ENSG00000231918.1

Variant related genes	Relation type
ENSG00000168439	chromatin interactions

Extended variants
information (count: 594 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10183053	chr2:52057287-52057288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575658940	chr2:52057294-52057295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142361279	chr2:52057304-52057305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564090292	chr2:52057317-52057318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528377491	chr2:52057322-52057323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76132596	chr2:52057344-52057345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561629593	chr2:52057367-52057368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191402583	chr2:52057373-52057374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146387486	chr2:52057379-52057380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568884091	chr2:52057381-52057382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531325539	chr2:52057394-52057395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182849982	chr2:52057445-52057446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551425442	chr2:52057447-52057448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368363107	chr2:52057480-52057481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148291602	chr2:52057488-52057489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75087028	chr2:52057497-52057498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72790165	chr2:52057526-52057527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527511985	chr2:52057551-52057552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187197340	chr2:52057554-52057555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191654228	chr2:52057588-52057589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530659602	chr2:52057603-52057604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184611725	chr2:52057614-52057615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75227781	chr2:52057655-52057656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531714499	chr2:52057671-52057672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140500002	chr2:52057685-52057686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190145873	chr2:52057687-52057688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150418038	chr2:52057694-52057695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78878531	chr2:52057750-52057751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573852401	chr2:52057771-52057772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544083413	chr2:52057808-52057809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565293173	chr2:52057813-52057814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562665505	chr2:52057844-52057845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138294166	chr2:52057859-52057860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551550633	chr2:52057869-52057870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142934722	chr2:52058069-52058070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527316667	chr2:52058083-52058084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370277378	chr2:52058087-52058088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548962221	chr2:52058108-52058109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111359744	chr2:52058124-52058125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374458942	chr2:52058134-52058135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185644852	chr2:52058160-52058161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550903737	chr2:52058200-52058201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199979981	chr2:52058205-52058206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552039219	chr2:52058216-52058217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189360535	chr2:52058217-52058218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557865894	chr2:52058245-52058246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180850241	chr2:52058257-52058258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570441643	chr2:52058296-52058297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375890461	chr2:52058352-52058353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555295145	chr2:52058380-52058381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:52071200-52072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:52071400-52072000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:52071400-52072200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:52071600-52072200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:52071600-52072200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links