Variant report

Variant	nsv874067
Chromosome Location	chr2:51563316-51606559
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:5)
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	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
2	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
3	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-2	chr2:51571329-51571385	XLOC_002094
2	lnc-NRXN1-2	chr2:51569718-51569850	XLOC_002094
3	lnc-NRXN1-2	chr2:51569718-51569990	XLOC_002094
4	lnc-CHAC2-4	chr2:51605233-51605311	ENSG00000231918.1
5	lnc-NRXN1-2	chr2:51569718-51569990	XLOC_002094

No data

Variant related genes	Relation type
PDCD4	miRNA target sites

Extended variants
information (count: 241 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17041596	chr2:51563316-51563317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540242464	chr2:51563382-51563383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62142927	chr2:51569719-51569720	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188971167	chr2:51569722-51569723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs62142928	chr2:51569726-51569727	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs60326347	chr2:51569749-51569750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142516067	chr2:51569783-51569784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs549327814	chr2:51569899-51569900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs567472971	chr2:51569909-51569910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs146034330	chr2:51569914-51569915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs139955503	chr2:51569926-51569927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs571179282	chr2:51569949-51569950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs538396277	chr2:51569961-51569962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs143463704	chr2:51569980-51569981	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs530021118	chr2:51569986-51569987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs535900955	chr2:51573485-51573486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541171779	chr2:51573499-51573500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62142930	chr2:51573521-51573522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55981151	chr2:51573524-51573525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568272734	chr2:51573531-51573532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551088821	chr2:51573554-51573555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569408911	chr2:51573563-51573564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550714680	chr2:51573581-51573582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139256564	chr2:51573611-51573612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185508844	chr2:51573672-51573673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370855602	chr2:51573705-51573706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529943857	chr2:51573727-51573728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557828660	chr2:51573788-51573789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115654619	chr2:51575804-51575805	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113016439	chr2:51575812-51575813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201889355	chr2:51575813-51575814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs199509105	chr2:51575834-51575835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531473032	chr2:51575847-51575848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566556473	chr2:51575850-51575851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549367364	chr2:51575863-51575864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368629129	chr2:51575895-51575896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs564532619	chr2:51575927-51575928	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528492484	chr2:51575960-51575961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs62142935	chr2:51575971-51575972	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555788365	chr2:51575977-51575978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs561710639	chr2:51575997-51575998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182131931	chr2:51576007-51576008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187148235	chr2:51576019-51576020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs146415571	chr2:51576070-51576071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191749236	chr2:51576078-51576079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571069303	chr2:51576135-51576136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538501316	chr2:51576146-51576147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539644261	chr2:51576173-51576174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75623814	chr2:51576195-51576196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140942367	chr2:51576244-51576245	Active TSS	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51561600-51563400	Enhancers	Liver	Liver
2	chr2:51562800-51563400	Enhancers	Fetal Intestine Large	intestine
3	chr2:51573400-51573800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:51573400-51573800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:51575800-51577800	Active TSS	NH-A	brain
6	chr2:51576200-51577800	Active TSS	HUVEC	blood vessel
7	chr2:51576400-51577000	Active TSS	Osteobl	bone
8	chr2:51576400-51577200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:51577800-51578000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:51577800-51578000	Enhancers	NH-A	brain
11	chr2:51581200-51581400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:51581400-51581600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:51581400-51581600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:51585000-51585600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:51605000-51619200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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