Variant report

Variant	nsv559217
Chromosome Location	chr12:67927393-67928224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67925081..67927690-chr12:67930273..67933177,2	MCF-7	breast:
2	chr12:67920467..67922517-chr12:67927709..67929345,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYRK2-11	chr12:67927437-67928538	expReg_chr12_7302_+

Extended variants
information (count: 23 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573263564	chr12:67927442-67927443	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs377296811	chr12:67927446-67927447	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs12427296	chr12:67927450-67927451	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577895299	chr12:67927456-67927457	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs544857486	chr12:67927714-67927715	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs563459865	chr12:67927747-67927748	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530747146	chr12:67927769-67927770	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs7133431	chr12:67927777-67927778	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111432539	chr12:67927864-67927865	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs186787107	chr12:67927865-67927866	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs112966618	chr12:67927913-67927914	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs547001519	chr12:67927919-67927920	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs571834290	chr12:67927948-67927949	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs368778077	chr12:67927956-67927957	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs141977213	chr12:67927987-67927988	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs150271827	chr12:67928070-67928071	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs551992014	chr12:67928076-67928077	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs147107949	chr12:67928121-67928122	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569065443	chr12:67928130-67928131	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs138877122	chr12:67928145-67928146	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs115707198	chr12:67928151-67928152	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs567071791	chr12:67928190-67928191	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs4913250	chr12:67928224-67928225	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Lung adenocarcinoma	17982442	CNVD
Bone cancer	16732325	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	17850661	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67911600-67927600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67919200-67927600	Weak transcription	Ovary	ovary
3	chr12:67919200-67928600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:67919200-67933000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:67920200-67928400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:67920600-67928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:67920600-67928600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:67920600-67928600	Weak transcription	Psoas Muscle	Psoas
9	chr12:67921600-67928400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:67921800-67928600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:67921800-67928600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:67922000-67928600	Weak transcription	Esophagus	oesophagus
13	chr12:67924200-67928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:67925200-67934800	Weak transcription	Gastric	stomach
15	chr12:67925400-67927600	Weak transcription	HSMMtube	muscle
16	chr12:67925600-67927600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:67925600-67927800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:67925600-67927800	Weak transcription	Osteobl	bone
19	chr12:67925600-67928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:67926000-67927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:67926200-67927600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:67926200-67927600	Weak transcription	NH-A	brain
23	chr12:67926800-67927800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:67927000-67927400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:67927000-67928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:67927000-67928400	Enhancers	NHEK	skin
27	chr12:67927000-67928600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:67927000-67929000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:67927000-67929400	Enhancers	NHDF-Ad	bronchial
30	chr12:67927000-67929600	Enhancers	HSMM	muscle
31	chr12:67927200-67929600	Enhancers	HMEC	breast
32	chr12:67927400-67929000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:67927400-67929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:67927600-67928000	Enhancers	NH-A	brain
35	chr12:67927600-67929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:67927600-67929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:67927600-67929200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:67927600-67929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:67927600-67929200	Enhancers	HSMMtube	muscle
40	chr12:67927600-67929400	Enhancers	Ovary	ovary
41	chr12:67927600-67929600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:67927600-67930400	Enhancers	Fetal Intestine Large	intestine
43	chr12:67927800-67928200	Enhancers	Placenta	Placenta
44	chr12:67927800-67928200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:67927800-67929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:67927800-67929200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:67927800-67929200	Enhancers	NHLF	lung
48	chr12:67927800-67929200	Enhancers	Osteobl	bone
49	chr12:67927800-67930000	Enhancers	Stomach Mucosa	stomach
50	chr12:67928000-67928400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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