Variant report

Variant	nsv1047870
Chromosome Location	chr12:42158954-42254373
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:0)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZRN4-1	chr12:42159122-42159368	XLOC_009714
2	lnc-PDZRN4-1	chr12:42159122-42159375	XLOC_009714
3	lnc-PDZRN4-1	chr12:42159122-42159368	XLOC_009714
4	lnc-PDZRN4-1	chr12:42159122-42159360	ENSG00000257784.1
5	lnc-PDZRN4-1	chr12:42159122-42159375	XLOC_009714
6	lnc-PDZRN4-1	chr12:42159122-42159368	XLOC_009714
7	lnc-GXYLT1-1	chr12:42223700-42223727	ENSG00000257239.1
8	lnc-PDZRN4-1	chr12:42159122-42159383	ENSG00000257784.1
9	lnc-PDZRN4-1	chr12:42159122-42159378	NONHSAT027756
10	lnc-PDZRN4-1	chr12:42159122-42159375	XLOC_009714
11	lnc-PDZRN4-1	chr12:42159122-42159368	XLOC_009714
12	lnc-PDZRN4-1	chr12:42159121-42159375	NONHSAT027752

No data

Extended variants
information (count: 3104 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3104 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12385828	chr12:42158954-42158955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537363149	chr12:42158974-42158975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57633726	chr12:42159002-42159003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568178011	chr12:42159010-42159011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145707674	chr12:42159016-42159017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553010502	chr12:42159021-42159022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111510638	chr12:42159023-42159024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544573517	chr12:42159052-42159053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552808368	chr12:42159129-42159130	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs556563003	chr12:42159131-42159132	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs73124287	chr12:42159135-42159136	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575488413	chr12:42159149-42159150	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs542925642	chr12:42159235-42159236	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs561464161	chr12:42159263-42159264	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs528680877	chr12:42159357-42159358	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs540496209	chr12:42159374-42159375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs191778361	chr12:42159455-42159456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532668394	chr12:42159459-42159460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143700092	chr12:42159512-42159513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377723470	chr12:42159515-42159516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs872168	chr12:42159517-42159518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs874155	chr12:42159550-42159551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555665267	chr12:42159607-42159608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567479095	chr12:42159635-42159636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs872167	chr12:42159641-42159642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552908880	chr12:42159651-42159652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151053400	chr12:42159676-42159677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538353207	chr12:42159677-42159678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183466874	chr12:42159704-42159705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574886719	chr12:42159711-42159712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542260697	chr12:42159720-42159721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141308621	chr12:42159722-42159723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573489693	chr12:42159756-42159757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117283584	chr12:42159768-42159769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565359398	chr12:42159782-42159783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145085078	chr12:42159785-42159786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544726661	chr12:42159795-42159796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563019718	chr12:42159817-42159818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530095496	chr12:42159826-42159827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113596273	chr12:42159855-42159856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561203213	chr12:42159907-42159908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528399750	chr12:42159911-42159912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546729210	chr12:42159943-42159944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571121261	chr12:42159944-42159945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140713628	chr12:42160008-42160009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550255982	chr12:42160020-42160021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568636720	chr12:42160040-42160041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535827561	chr12:42160058-42160059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150495607	chr12:42160061-42160062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114493364	chr12:42160076-42160077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42158600-42165600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:42161000-42161600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:42161000-42161600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:42161000-42162000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:42161200-42161600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:42161200-42161600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:42161200-42161600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:42161200-42162000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:42161200-42162000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:42165400-42165600	Enhancers	Brain Germinal Matrix	brain
11	chr12:42165600-42165800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:42165800-42170400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:42170400-42171600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42170400-42173800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:42170800-42171200	Enhancers	HUVEC	blood vessel
16	chr12:42184800-42185200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:42187000-42188200	Enhancers	Brain Germinal Matrix	brain
18	chr12:42187600-42188200	Enhancers	HUVEC	blood vessel
19	chr12:42187600-42188800	Enhancers	Fetal Lung	lung
20	chr12:42187600-42189600	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:42187600-42189800	Enhancers	Fetal Brain Male	brain
22	chr12:42188000-42188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:42188000-42190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:42188000-42190600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:42188200-42188600	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr12:42188200-42188800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:42188200-42188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:42188200-42189000	Enhancers	Fetal Brain Female	brain
29	chr12:42188200-42189200	Enhancers	Brain Hippocampus Middle	brain
30	chr12:42188200-42189200	Flanking Active TSS	HUVEC	blood vessel
31	chr12:42188200-42189400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:42188200-42190000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:42188200-42190200	Enhancers	Fetal Stomach	stomach
34	chr12:42188400-42188600	Enhancers	NH-A	brain
35	chr12:42188400-42189200	Enhancers	Fetal Kidney	kidney
36	chr12:42188400-42189400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:42188600-42189000	Enhancers	Brain Anterior Caudate	brain
38	chr12:42188600-42189200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:42188600-42189800	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:42188600-42192600	Enhancers	Brain Germinal Matrix	brain
41	chr12:42188800-42189200	Enhancers	Adipose Nuclei	Adipose
42	chr12:42188800-42189200	Flanking Active TSS	Fetal Lung	lung
43	chr12:42188800-42189200	Enhancers	Psoas Muscle	Psoas
44	chr12:42188800-42189600	Enhancers	Fetal Muscle Leg	muscle
45	chr12:42189000-42189400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:42189000-42189400	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:42189200-42189400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:42189200-42189400	Enhancers	Aorta	Aorta
49	chr12:42189200-42189400	Enhancers	NH-A	brain
50	chr12:42189200-42190000	Enhancers	Fetal Lung	lung

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