Variant report

Variant	nsv581875
Chromosome Location	chr2:51386738-51440854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
2	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
3	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
2	lnc-NRXN1-4	chr2:51413304-51413539	l_1834_chr2:51413303-51423493_76bGuttman_hLF
3	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
4	lnc-NRXN1-1	chr2:51430129-51430299	ENSG00000237374
5	lnc-NRXN1-4	chr2:51414157-51414291	l_1834_chr2:51413303-51423493_76bGuttman_hLF
6	lnc-NRXN1-4	chr2:51423222-51423493	l_1834_chr2:51413303-51423493_76bGuttman_hLF
7	lnc-NRXN1-1	chr2:51430129-51430286	ENSG00000237374

No data

Extended variants
information (count: 411 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572135502	chr2:51392644-51392645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182584618	chr2:51392718-51392719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138321042	chr2:51392744-51392745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563879662	chr2:51392784-51392785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67712653	chr2:51392814-51392815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187858096	chr2:51392848-51392849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193179044	chr2:51392849-51392850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528506886	chr2:51392850-51392851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546571947	chr2:51392879-51392880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568241500	chr2:51392886-51392887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141838547	chr2:51392918-51392919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184993483	chr2:51392954-51392955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150670837	chr2:51392976-51392977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557754774	chr2:51392985-51392986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374120844	chr2:51393024-51393025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558133537	chr2:51393039-51393040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566766821	chr2:51393057-51393058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139916268	chr2:51393109-51393110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555381640	chr2:51393121-51393122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149819168	chr2:51393176-51393177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544263302	chr2:51393185-51393186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527881131	chr2:51393210-51393211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557274147	chr2:51393242-51393243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72830242	chr2:51393246-51393247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115517958	chr2:51393249-51393250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370383114	chr2:51393273-51393274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72830243	chr2:51393286-51393287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564471136	chr2:51393302-51393303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528735763	chr2:51393339-51393340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540251278	chr2:51393345-51393346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144865078	chr2:51393360-51393361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529379688	chr2:51393397-51393398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189100256	chr2:51393454-51393455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569251095	chr2:51393458-51393459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372264811	chr2:51393489-51393490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533206348	chr2:51393502-51393503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551587005	chr2:51393505-51393506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566801567	chr2:51393536-51393537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534055066	chr2:51393545-51393546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192460728	chr2:51393556-51393557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555418867	chr2:51393561-51393562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140181647	chr2:51393574-51393575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375372694	chr2:51393597-51393598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550525224	chr2:51393599-51393600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183797441	chr2:51393600-51393601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577646506	chr2:51393613-51393614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13388985	chr2:51393653-51393654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74968299	chr2:51393654-51393655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573214948	chr2:51393669-51393670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188070603	chr2:51393670-51393671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Bladder cancer	21909424	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51392600-51393400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:51392600-51393600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:51392600-51393600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:51392800-51393200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:51392800-51393400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:51392800-51393400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:51392800-51393600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:51392800-51393600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:51392800-51393800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:51393000-51393400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:51393000-51393400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:51393000-51393400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:51393000-51393400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:51393000-51393400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:51393000-51393600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:51393000-51393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:51393400-51399800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:51393600-51396600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:51393600-51397200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:51393600-51397400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:51396600-51397600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:51397200-51397800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:51397400-51397800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:51397400-51397800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:51397600-51398600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:51398600-51398800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:51435800-51436000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:51436600-51436800	Enhancers	Pancreas	Pancrea
29	chr2:51438800-51439000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:51439600-51439800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:51440800-51441600	Enhancers	NH-A	brain

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