Variant report

Variant	nsv431035
Chromosome Location	chr2:51314549-51432949
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:4)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
2	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
3	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
4	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-NRXN1-4	chr2:51414157-51414291	l_1834_chr2:51413303-51423493_76bGuttman_hLF
2	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
3	lnc-NRXN1-1	chr2:51430129-51430286	ENSG00000237374
4	lnc-NRXN1-4	chr2:51413304-51413539	l_1834_chr2:51413303-51423493_76bGuttman_hLF
5	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
6	lnc-NRXN1-1	chr2:51430129-51430299	ENSG00000237374
7	lnc-NRXN1-4	chr2:51423222-51423493	l_1834_chr2:51413303-51423493_76bGuttman_hLF

No data

Extended variants
information (count: 1820 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1820 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148238819	chr2:51314568-51314569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535254064	chr2:51314585-51314586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190447547	chr2:51314610-51314611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546983516	chr2:51314629-51314630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376063693	chr2:51314635-51314636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370551192	chr2:51314650-51314651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529428734	chr2:51314788-51314789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116197494	chr2:51314789-51314790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555648726	chr2:51314791-51314792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74545611	chr2:51314815-51314816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551431513	chr2:51314860-51314861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184170747	chr2:51314919-51314920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115096320	chr2:51314959-51314960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555356558	chr2:51314976-51314977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573370664	chr2:51314992-51314993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537575838	chr2:51315006-51315007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557125903	chr2:51315026-51315027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575482583	chr2:51315034-51315035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116725571	chr2:51315088-51315089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564585976	chr2:51315117-51315118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573497409	chr2:51315178-51315179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540237394	chr2:51315198-51315199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141363370	chr2:51315199-51315200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200422889	chr2:51315220-51315221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397748160	chr2:51315221-51315222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529389557	chr2:51315295-51315296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551135858	chr2:51315296-51315297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373273494	chr2:51315333-51315334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150807061	chr2:51315393-51315394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533112457	chr2:51315404-51315405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558215216	chr2:51315411-51315412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139188246	chr2:51315426-51315427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566614470	chr2:51315429-51315430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188870861	chr2:51315430-51315431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548678301	chr2:51315481-51315482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60155837	chr2:51315503-51315504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567882587	chr2:51315518-51315519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376750994	chr2:51315521-51315522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537548350	chr2:51315527-51315528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555795245	chr2:51315555-51315556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577330352	chr2:51315569-51315570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539612086	chr2:51315582-51315583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10708414	chr2:51315617-51315618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149574009	chr2:51315635-51315636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146056400	chr2:51315638-51315639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540771659	chr2:51315668-51315669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573437020	chr2:51315672-51315673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193221096	chr2:51315737-51315738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184353572	chr2:51315761-51315762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186775660	chr2:51315766-51315767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	21364760	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
Schizophrenia	17989066	CNVD
Bipolar disorder	19114987	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51313600-51318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:51318200-51318600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:51320200-51320800	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:51320600-51321000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:51320800-51321000	Enhancers	Psoas Muscle	Psoas
6	chr2:51321000-51321200	Weak transcription	Psoas Muscle	Psoas
7	chr2:51321000-51325800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:51323000-51323600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:51325800-51326400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:51326400-51330000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:51328200-51328400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:51328200-51328400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:51328200-51328600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:51328600-51329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:51328600-51330200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:51329000-51330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:51329400-51330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:51329600-51331000	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:51329800-51330200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:51329800-51330400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:51329800-51330400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:51329800-51330600	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:51329800-51330800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:51329800-51331000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:51329800-51331000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:51330000-51330200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:51330000-51330400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:51330000-51330600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:51330000-51330800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:51330000-51331000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:51330000-51331000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:51330000-51331000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:51330000-51331000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:51330000-51331000	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:51330000-51331000	Enhancers	Placenta	Placenta
36	chr2:51330200-51330400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:51330200-51330600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:51330200-51330600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:51330200-51330600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:51330200-51330600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:51330200-51330800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:51330200-51330800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:51330200-51331000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:51330200-51331000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:51330200-51331000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:51330200-51331000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:51330200-51331000	Enhancers	Fetal Heart	heart
48	chr2:51330200-51331000	Enhancers	Fetal Muscle Leg	muscle
49	chr2:51330200-51331000	Enhancers	HUVEC	blood vessel
50	chr2:51330400-51330600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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