Variant report

Variant	nsv874065
Chromosome Location	chr2:51538031-51654878
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:5)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
2	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
3	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
4	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:
5	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-2	chr2:51569718-51569850	XLOC_002094
2	lnc-NRXN1-2	chr2:51560653-51560803	XLOC_002094
3	lnc-NRXN1-2	chr2:51569718-51569990	XLOC_002094
4	lnc-CHAC2-4	chr2:51605233-51605311	ENSG00000231918.1
5	lnc-NRXN1-2	chr2:51571329-51571385	XLOC_002094
6	lnc-NRXN1-2	chr2:51559800-51560035	XLOC_002094
7	lnc-CHAC2-4	chr2:51555527-51555627	ENSG00000231918.1
8	lnc-NRXN1-2	chr2:51569718-51569990	XLOC_002094
9	lnc-NRXN1-2	chr2:51559800-51560035	XLOC_002094
10	lnc-NRXN1-2	chr2:51560653-51560787	XLOC_002094
11	lnc-NRXN1-2	chr2:51560653-51560787	XLOC_002094

No data

Variant related genes	Relation type
PDCD4	miRNA target sites
PDCD10	miRNA target sites

Extended variants
information (count: 1798 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4971739	chr2:51538031-51538032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549906239	chr2:51538071-51538072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573593270	chr2:51538095-51538096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376704490	chr2:51538125-51538126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192505896	chr2:51538138-51538139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4971740	chr2:51538141-51538142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184367130	chr2:51538165-51538166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549992793	chr2:51538169-51538170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571528642	chr2:51538197-51538198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556664209	chr2:51545201-51545202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578026589	chr2:51545211-51545212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186756549	chr2:51545238-51545239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373413036	chr2:51545268-51545269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553707839	chr2:51545274-51545275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191110259	chr2:51545290-51545291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376352967	chr2:51545302-51545303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11895107	chr2:51545310-51545311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542953738	chr2:51545316-51545317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182545432	chr2:51545324-51545325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531384352	chr2:51545347-51545348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543434668	chr2:51545357-51545358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377425939	chr2:51545360-51545361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532085803	chr2:51545361-51545362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12990382	chr2:51545388-51545389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547052519	chr2:51545428-51545429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372997289	chr2:51545466-51545467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566965525	chr2:51545470-51545471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560145081	chr2:51545471-51545472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187589508	chr2:51545480-51545481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12990068	chr2:51545486-51545487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370702130	chr2:51545488-51545489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537889123	chr2:51545497-51545498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375777816	chr2:51545548-51545549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542650601	chr2:51545562-51545563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190444618	chr2:51545568-51545569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538772375	chr2:51545577-51545578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554198775	chr2:51545584-51545585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531860237	chr2:51545585-51545586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183394345	chr2:51545603-51545604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540259126	chr2:51545608-51545609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554946893	chr2:51545619-51545620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145395212	chr2:51545626-51545627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111628537	chr2:51545631-51545632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551880345	chr2:51545647-51545648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376121471	chr2:51545654-51545655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564746164	chr2:51545658-51545659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12464044	chr2:51545662-51545663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12476371	chr2:51545685-51545686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375807944	chr2:51545691-51545692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140838151	chr2:51545703-51545704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51537200-51538200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:51545200-51550200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:51547000-51547800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:51549000-51549800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:51549800-51550200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:51550200-51551800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:51551000-51551600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:51551000-51551600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:51551200-51551600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:51554600-51557000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:51555000-51557400	Weak transcription	HUVEC	blood vessel
12	chr2:51557000-51557400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:51558400-51558800	Enhancers	Liver	Liver
14	chr2:51558800-51561600	Weak transcription	Liver	Liver
15	chr2:51561600-51563400	Enhancers	Liver	Liver
16	chr2:51562800-51563400	Enhancers	Fetal Intestine Large	intestine
17	chr2:51573400-51573800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:51573400-51573800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:51575800-51577800	Active TSS	NH-A	brain
20	chr2:51576200-51577800	Active TSS	HUVEC	blood vessel
21	chr2:51576400-51577000	Active TSS	Osteobl	bone
22	chr2:51576400-51577200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:51577800-51578000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:51577800-51578000	Enhancers	NH-A	brain
25	chr2:51581200-51581400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:51581400-51581600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:51581400-51581600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
28	chr2:51585000-51585600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:51605000-51619200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:51614000-51614200	Enhancers	Placenta	Placenta
31	chr2:51614000-51614400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:51614000-51614600	Enhancers	Osteobl	bone
33	chr2:51614000-51615000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:51614000-51615200	Enhancers	NH-A	brain
35	chr2:51614200-51614600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:51614200-51614800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:51614400-51616800	Weak transcription	Placenta	Placenta
38	chr2:51614800-51616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:51616600-51618800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:51616800-51617000	Enhancers	Placenta	Placenta
41	chr2:51616800-51617800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:51617000-51617200	Weak transcription	Placenta	Placenta
43	chr2:51617200-51618800	ZNF genes & repeats	Placenta	Placenta
44	chr2:51617400-51618000	Enhancers	Esophagus	oesophagus
45	chr2:51617800-51618200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:51618200-51618600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:51628800-51629000	Enhancers	Gastric	stomach
48	chr2:51636800-51637800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr2:51636800-51638400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:51637000-51637200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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