Variant report

Variant	nsv874064
Chromosome Location	chr2:51492973-51594480
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:10)
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	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
2	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:
3	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:
4	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
5	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:

(count:10 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 2673 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2673 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1115763	chr2:51492973-51492974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548549905	chr2:51492985-51492986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554518454	chr2:51493013-51493014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572746049	chr2:51493037-51493038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542926887	chr2:51493079-51493080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554991073	chr2:51493095-51493096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61503353	chr2:51493137-51493138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192474527	chr2:51493177-51493178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543902292	chr2:51493179-51493180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565000053	chr2:51493246-51493247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532191344	chr2:51493247-51493248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540801356	chr2:51493279-51493280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559100743	chr2:51493290-51493291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10469920	chr2:51493311-51493312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs70958650	chr2:51493330-51493331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397984567	chr2:51493332-51493333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184453595	chr2:51493335-51493336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74907532	chr2:51493358-51493359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530377331	chr2:51493369-51493370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142206132	chr2:51493391-51493392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs70958651	chr2:51493396-51493397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199598411	chr2:51493398-51493399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200707896	chr2:51493399-51493400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369760075	chr2:51493410-51493411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552258019	chr2:51493414-51493415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530203986	chr2:51493452-51493453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539256131	chr2:51493455-51493456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564015134	chr2:51493470-51493471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189697535	chr2:51493485-51493486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537002605	chr2:51493492-51493493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550427950	chr2:51493556-51493557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554919020	chr2:51493559-51493560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576395622	chr2:51493576-51493577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537017440	chr2:51493580-51493581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558649055	chr2:51493613-51493614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115299935	chr2:51493619-51493620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541112181	chr2:51493645-51493646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559162610	chr2:51493656-51493657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181235540	chr2:51493783-51493784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542110975	chr2:51493802-51493803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563395369	chr2:51493817-51493818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530540772	chr2:51493872-51493873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146758790	chr2:51493924-51493925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564047780	chr2:51493928-51493929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536918637	chr2:51493931-51493932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114033896	chr2:51493965-51493966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12469514	chr2:51493968-51493969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530507085	chr2:51493976-51493977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566281141	chr2:51493992-51493993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115865545	chr2:51494005-51494006	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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51490600-51499000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:51491600-51495200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:51491800-51495600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:51492000-51495000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:51492000-51495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:51492000-51495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:51492000-51501800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:51492800-51493000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:51493000-51502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:51495000-51496200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:51495200-51495400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:51495200-51495600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:51495200-51495800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:51495600-51496000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:51495800-51496000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:51496200-51501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:51497800-51501800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:51499000-51499200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:51501800-51502200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:51501800-51502200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:51501800-51502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:51501800-51502400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:51501800-51502600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:51501800-51502600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:51501800-51502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:51501800-51502600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:51501800-51502600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:51502000-51502600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:51502000-51502600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:51502000-51502600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:51502400-51502600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:51502600-51503600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:51502600-51509200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:51502600-51509600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:51502600-51518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:51503600-51504000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:51509200-51509800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:51509200-51510000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:51509600-51509800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:51509800-51510600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:51509800-51510800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:51509800-51511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:51510000-51510800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:51510600-51512000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:51510800-51511200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:51510800-51511600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:51510800-51511800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:51511000-51511600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:51511000-51511800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:51511200-51511600	Active TSS	Pancreatic Islets	Pancreatic Islet

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