Variant report

Variant	nsv521008
Chromosome Location	chr12:67305277-67322614
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
2	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
3	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
4	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
5	chr12:67310671..67312914-chr12:67463080..67465006,2	MCF-7	breast:
6	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
7	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
8	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
9	chr12:67313721..67315403-chr3:64008018..64010221,2	MCF-7	breast:
10	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
11	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:
12	chr1:234360449..234360966-chr12:67305655..67306184,2	MCF-7	breast:
13	chr12:67314700..67316458-chr12:67662314..67664044,2	MCF-7	breast:
14	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111530	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 625 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12811382	chr12:67305277-67305278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572232399	chr12:67305324-67305325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181330237	chr12:67305327-67305328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140978473	chr12:67305328-67305329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186389436	chr12:67305335-67305336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564021639	chr12:67305351-67305352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191230396	chr12:67305379-67305380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369017286	chr12:67305391-67305392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372921239	chr12:67305398-67305399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180947794	chr12:67305418-67305419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541468537	chr12:67305431-67305432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529174223	chr12:67305435-67305436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185935975	chr12:67305496-67305497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566107131	chr12:67305516-67305517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533170784	chr12:67305592-67305593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76099275	chr12:67305624-67305625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150211595	chr12:67305686-67305687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147907328	chr12:67305687-67305688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191161642	chr12:67305699-67305700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555514413	chr12:67305763-67305764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573124090	chr12:67305782-67305783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141496194	chr12:67305867-67305868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377146011	chr12:67305914-67305915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534943225	chr12:67305942-67305943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553379491	chr12:67305989-67305990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572052131	chr12:67306019-67306020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545457901	chr12:67306093-67306094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533021279	chr12:67306180-67306181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78222241	chr12:67306181-67306182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576020678	chr12:67306208-67306209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562803335	chr12:67306241-67306242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531601572	chr12:67306242-67306243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369899204	chr12:67306262-67306263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183298888	chr12:67306285-67306286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561818860	chr12:67306310-67306311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147048864	chr12:67306348-67306349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571791134	chr12:67306374-67306375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541383487	chr12:67306434-67306435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74098144	chr12:67306451-67306452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533397362	chr12:67306459-67306460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551449901	chr12:67306487-67306488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563824874	chr12:67306516-67306517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12227383	chr12:67306526-67306527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373109314	chr12:67306531-67306532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549177488	chr12:67306553-67306554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112754027	chr12:67306572-67306573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117186737	chr12:67306607-67306608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187672289	chr12:67306608-67306609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571834378	chr12:67306653-67306654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527401890	chr12:67306661-67306662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Neuroticism	17667963	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67302200-67309000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67302600-67305400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:67304400-67305400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:67304600-67305400	Enhancers	Primary T cells from cord blood	blood
5	chr12:67307600-67309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:67308000-67310200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:67308600-67309000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:67308600-67309200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:67308600-67309800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:67308600-67309800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:67308600-67310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:67308600-67310400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:67308600-67310400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:67308600-67311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:67308800-67309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:67308800-67310200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:67308800-67310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:67308800-67310400	Enhancers	Primary T cells from cord blood	blood
19	chr12:67309000-67309200	Enhancers	Colon Smooth Muscle	Colon
20	chr12:67309000-67309600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:67309000-67309600	Enhancers	NHEK	skin
22	chr12:67309000-67309800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:67309000-67310200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:67309000-67310200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:67309000-67310200	Enhancers	Brain Germinal Matrix	brain
26	chr12:67309000-67310200	Enhancers	Fetal Heart	heart
27	chr12:67309000-67311200	Enhancers	HMEC	breast
28	chr12:67309200-67309400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:67309200-67309600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:67309200-67309600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:67309200-67309600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:67309200-67309600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:67309200-67309800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:67309200-67310000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:67309200-67310000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:67309200-67310000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:67309200-67310000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:67309200-67310000	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:67309200-67310000	Enhancers	Esophagus	oesophagus
40	chr12:67309400-67309600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:67309400-67310000	Enhancers	Fetal Brain Male	brain
42	chr12:67309400-67314800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:67309600-67309800	Flanking Active TSS	NHEK	skin
44	chr12:67309600-67310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:67309600-67310000	Enhancers	Brain Anterior Caudate	brain
46	chr12:67309600-67310000	Enhancers	Fetal Thymus	thymus
47	chr12:67309600-67310200	Enhancers	Placenta	Placenta
48	chr12:67309600-67310400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:67309800-67310000	Enhancers	NHEK	skin
50	chr12:67309800-67316200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links