Variant report

Variant	nsv1012208
Chromosome Location	chr2:51266798-51415994
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:8)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
2	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
3	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
4	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
5	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
6	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
7	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
8	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-4	chr2:51413304-51413539	l_1834_chr2:51413303-51423493_76bGuttman_hLF
2	lnc-NRXN1-4	chr2:51414157-51414291	l_1834_chr2:51413303-51423493_76bGuttman_hLF
3	lnc-NRXN1-3	chr2:51283633-51283791	NONHSAT070652
4	lnc-NRXN1-3	chr2:51302313-51302437	l_1833_chr2:51283578-51306188_testes
5	lnc-NRXN1-3	chr2:51306149-51306209	l_1833_chr2:51283578-51306188_testes
6	lnc-NRXN1-3	chr2:51282723-51282956	NONHSAT070652
7	lnc-NRXN1-3	chr2:51294575-51294743	l_1833_chr2:51283578-51306188_testes
8	lnc-NRXN1-3	chr2:51302314-51302406	NONHSAT070652
9	lnc-NRXN1-3	chr2:51283579-51283793	l_1833_chr2:51283578-51306188_testes
10	lnc-CHAC2-4	chr2:51279495-51279592	ENSG00000231918.1

No data

Extended variants
information (count: 2420 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2420 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75348031	chr2:51279501-51279502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs188337062	chr2:51279515-51279516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs552590094	chr2:51279558-51279559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs370316874	chr2:51282786-51282787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200153068	chr2:51282811-51282812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs200961057	chr2:51282812-51282813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78684349	chr2:51282813-51282814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs397775290	chr2:51282814-51282815	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs374313409	chr2:51282875-51282876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs527876464	chr2:51282885-51282886	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs145808115	chr2:51282932-51282933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12713133	chr2:51283579-51283580	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559787195	chr2:51283584-51283585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs12713134	chr2:51283601-51283602	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537278803	chr2:51283606-51283607	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs189413340	chr2:51283636-51283637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs375959576	chr2:51283640-51283641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576769499	chr2:51283649-51283650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs74470760	chr2:51283655-51283656	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs149776820	chr2:51283675-51283676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs374315385	chr2:51283679-51283680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs368842879	chr2:51283680-51283681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs200469355	chr2:51283681-51283682	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs199912309	chr2:51283682-51283683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs552507255	chr2:51283731-51283732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574120473	chr2:51283749-51283750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541523979	chr2:51283766-51283767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs563429061	chr2:51283787-51283788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs193033651	chr2:51283788-51283789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561882318	chr2:51291826-51291827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77634008	chr2:51291851-51291852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77820775	chr2:51291858-51291859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568874202	chr2:51291909-51291910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11685189	chr2:51291925-51291926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368719568	chr2:51292031-51292032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71411524	chr2:51292034-51292035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79580773	chr2:51292053-51292054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532955103	chr2:51292054-51292055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77186769	chr2:51292055-51292056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571001801	chr2:51292110-51292111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534952971	chr2:51292129-51292130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372056897	chr2:51292136-51292137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181303617	chr2:51292210-51292211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574990566	chr2:51292222-51292223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535746814	chr2:51292234-51292235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186262099	chr2:51292235-51292236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540589099	chr2:51292317-51292318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575250888	chr2:51292327-51292328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10180695	chr2:51292332-51292333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564270834	chr2:51292336-51292337	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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	20967226	CNVD
Schizophrenia	17989066	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51291800-51292400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:51291800-51292800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:51292400-51292800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:51292400-51293000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:51295000-51303600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:51295400-51295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:51295400-51295800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:51295400-51299400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:51295600-51296600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:51295800-51297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:51296600-51298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:51297000-51297200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:51297000-51298400	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:51297200-51298800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:51297600-51298400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:51298000-51298800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:51298200-51298600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:51298600-51299400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:51299800-51300000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:51299800-51300400	Enhancers	Liver	Liver
21	chr2:51300200-51300400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:51300400-51301800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:51301600-51301800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:51301600-51304000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:51301800-51302600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:51301800-51304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:51302400-51303400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:51302600-51303000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:51302600-51303000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:51302600-51303400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:51302600-51303400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:51303000-51303200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:51303200-51303600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:51303600-51304400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:51304400-51304600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:51311000-51311600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:51311600-51313400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:51312800-51313000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:51313600-51318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:51318200-51318600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:51320200-51320800	Active TSS	Stomach Smooth Muscle	stomach
42	chr2:51320600-51321000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:51320800-51321000	Enhancers	Psoas Muscle	Psoas
44	chr2:51321000-51321200	Weak transcription	Psoas Muscle	Psoas
45	chr2:51321000-51325800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:51323000-51323600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:51325800-51326400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:51326400-51330000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:51328200-51328400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:51328200-51328400	Enhancers	HUES6 Cell Line	embryonic stem cell

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