Variant report

Variant	nsv1040339
Chromosome Location	chr12:67925018-67963239
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:16)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67919312..67922056-chr12:67923127..67926496,3	MCF-7	breast:
2	chr12:67936100..67938261-chr12:67959847..67962792,2	MCF-7	breast:
3	chr12:67957355..67959507-chr12:67971466..67973893,2	MCF-7	breast:
4	chr12:67933895..67938546-chr12:67983803..67988569,4	MCF-7	breast:
5	chr12:67936100..67938261-chr12:67959847..67962792,2	MCF-7	breast:
6	chr12:67859635..67861520-chr12:67936585..67938194,2	MCF-7	breast:
7	chr12:67925081..67927690-chr12:67930273..67933177,2	MCF-7	breast:
8	chr12:67920467..67922517-chr12:67927709..67929345,2	K562	blood:
9	chr12:67931176..67934535-chr12:68041710..68043984,4	MCF-7	breast:
10	chr12:67962764..67963433-chr2:45228606..45229448,2	MCF-7	breast:
11	chr12:67921567..67923313-chr12:67929508..67932391,2	MCF-7	breast:
12	chr12:67897464..67899769-chr12:67949971..67951508,2	MCF-7	breast:
13	chr12:67877392..67878149-chr12:67938622..67939147,2	MCF-7	breast:
14	chr12:67925081..67927690-chr12:67930273..67933177,2	MCF-7	breast:
15	chr12:67932650..67935229-chr12:67985570..67988339,2	MCF-7	breast:
16	chr12:67873687..67876315-chr12:67941598..67943216,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYRK2-10	chr12:67937365-67937582	expReg_chr12_7314_+
2	lnc-DYRK2-1	chr12:67942903-67942944	XLOC_009791
3	lnc-DYRK2-8	chr12:67947506-67947774	expReg_chr12_7350_+
4	lnc-DYRK2-1	chr12:67959294-67960906	XLOC_009791
5	lnc-DYRK2-11	chr12:67927437-67928538	expReg_chr12_7302_+
6	lnc-DYRK2-1	chr12:67959294-67960911	NONHSAT029258
7	lnc-DYRK2-1	chr12:67942903-67942944	NONHSAT029258
8	lnc-DYRK2-1	chr12:67942903-67942943	ENSG00000203585
9	lnc-DYRK2-1	chr12:67935907-67936314	ENSG00000203585
10	lnc-DYRK2-7	chr12:67947804-67948050	expReg_chr12_7351_+
11	lnc-DYRK2-9	chr12:67944589-67945076	expReg_chr12_7340_+

No data

Variant related genes	Relation type
ENSG00000127334	chromatin interactions

Extended variants
information (count: 1385 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1385 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117526930	chr12:67925029-67925030	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118041113	chr12:67925044-67925045	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115616212	chr12:67925082-67925083	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563891596	chr12:67925113-67925114	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190211311	chr12:67925143-67925144	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571816834	chr12:67925148-67925149	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369344347	chr12:67925177-67925178	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139415292	chr12:67925184-67925185	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74102619	chr12:67925231-67925232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547218528	chr12:67925254-67925255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565819754	chr12:67925262-67925263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377752916	chr12:67925328-67925329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539517338	chr12:67925334-67925335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57977889	chr12:67925411-67925412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397699674	chr12:67925419-67925420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56797999	chr12:67925420-67925421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569906396	chr12:67925428-67925429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537463828	chr12:67925553-67925554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534279703	chr12:67925607-67925608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554242434	chr12:67925631-67925632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556084113	chr12:67925697-67925698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567643790	chr12:67925698-67925699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574430399	chr12:67925716-67925717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151003890	chr12:67925758-67925759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553633911	chr12:67925770-67925771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182802320	chr12:67925825-67925826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377574468	chr12:67925889-67925890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578135109	chr12:67925896-67925897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545551340	chr12:67925905-67925906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115141950	chr12:67925908-67925909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545219898	chr12:67925919-67925920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536227347	chr12:67925933-67925934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370734415	chr12:67925941-67925942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555652773	chr12:67925944-67925945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56166033	chr12:67925958-67925959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149748442	chr12:67926026-67926027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561627764	chr12:67926034-67926035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374370468	chr12:67926040-67926041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529185370	chr12:67926073-67926074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186014858	chr12:67926144-67926145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559256906	chr12:67926164-67926165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10878628	chr12:67926209-67926210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570170836	chr12:67926215-67926216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145542201	chr12:67926240-67926241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140354334	chr12:67926272-67926273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549424537	chr12:67926314-67926315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190717296	chr12:67926319-67926320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183699506	chr12:67926362-67926363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189090203	chr12:67926363-67926364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554126734	chr12:67926389-67926390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:320 , 50 per page) page: 1 2 3 4 5 6 7

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	chr12:67920400-67925200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:67920600-67928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:67920600-67928600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:67920600-67928600	Weak transcription	Psoas Muscle	Psoas
10	chr12:67921600-67928400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:67921800-67928600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:67921800-67928600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:67922000-67928600	Weak transcription	Esophagus	oesophagus
14	chr12:67924200-67928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:67924800-67925600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:67924800-67925600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:67924800-67925600	Enhancers	Fetal Brain Male	brain
18	chr12:67924800-67925600	Enhancers	HMEC	breast
19	chr12:67924800-67925600	Enhancers	NHEK	skin
20	chr12:67924800-67926200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:67925000-67925200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:67925000-67925200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:67925000-67925200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:67925000-67925200	Enhancers	Gastric	stomach
25	chr12:67925000-67925400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:67925000-67925400	Enhancers	HSMMtube	muscle
27	chr12:67925000-67925600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:67925000-67925600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:67925000-67925600	Enhancers	Fetal Brain Female	brain
30	chr12:67925000-67925800	Enhancers	HSMM	muscle
31	chr12:67925000-67926200	Enhancers	NH-A	brain
32	chr12:67925200-67925600	Enhancers	Primary T cells from cord blood	blood
33	chr12:67925200-67925800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:67925200-67934800	Weak transcription	Gastric	stomach
35	chr12:67925400-67925600	Enhancers	Osteobl	bone
36	chr12:67925400-67927600	Weak transcription	HSMMtube	muscle
37	chr12:67925600-67926400	Weak transcription	Fetal Brain Male	brain
38	chr12:67925600-67926800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:67925600-67927000	Weak transcription	NHEK	skin
40	chr12:67925600-67927200	Weak transcription	HMEC	breast
41	chr12:67925600-67927600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:67925600-67927800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:67925600-67927800	Weak transcription	Osteobl	bone
44	chr12:67925600-67928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:67925800-67926000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:67925800-67927000	Weak transcription	HSMM	muscle
47	chr12:67926000-67927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:67926200-67927000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:67926200-67927000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr12:67926200-67927600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links