Variant report

Variant	nsv522810
Chromosome Location	chr12:66859576-66860088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:66859938-66859988	AG09309	skin:	n/a
2	chr12:66859938-66859988	HMEC	breast:	n/a
3	chr12:66859938-66859988	MCF-7	breast:	n/a
4	chr12:66860050-66860100	GM12878	blood:	n/a
5	chr12:66860050-66860100	GM06990	blood:	n/a
6	chr12:66859938-66859988	NT2-D1	testis:	n/a
7	chr12:66860050-66860100	Caco-2	colon:	n/a
8	chr12:66859938-66859988	PrEC	prostate:	n/a
9	chr12:66859938-66859988	MCF10A-Er-Src	breast:	n/a
10	chr12:66860050-66860100	A549	lung:	n/a
11	chr12:66860050-66860100	HCM	heart:	n/a
12	chr12:66859938-66859988	K562	blood:	n/a
13	chr12:66859938-66859988	NHDF-neo	bronchial:	n/a
14	chr12:66860050-66860100	SK-N-SH	brain:	n/a
15	chr12:66859938-66859988	Caco-2	colon:	n/a
16	chr12:66860050-66860100	NHDF-neo	bronchial:	n/a
17	chr12:66859938-66859988	U87	brain:	n/a
18	chr12:66859938-66859988	HEK293	kidney:	embryo
19	chr12:66859938-66859988	Hela-S3	cervix:	n/a
20	chr12:66860050-66860100	HCPEpiC	choroid plexus:	n/a
21	chr12:66859938-66859988	LNCaP	prostate:	n/a
22	chr12:66860050-66860100	AG10803	skin:	n/a
23	chr12:66859938-66859988	BE2_C	brain:	n/a
24	chr12:66859938-66859988	HRE	kidney:	n/a
25	chr12:66860050-66860100	AG04450	lung:	fetal
26	chr12:66860050-66860100	Jurkat	blood:	n/a
27	chr12:66860050-66860100	PFSK-1	brain:	n/a
28	chr12:66859938-66859988	AoSMC	blood vessel:	n/a
29	chr12:66860050-66860100	HRPEpiC	eye:	n/a
30	chr12:66860050-66860100	HNPCEpiC	eye:	n/a
31	chr12:66859938-66859988	A549	lung:	n/a
32	chr12:66860050-66860100	HMEC	breast:	n/a
33	chr12:66860050-66860100	NHBE	bronchial:	n/a
34	chr12:66860050-66860100	HAEpiC	amniotic membrane:	n/a
35	chr12:66859938-66859988	ProgFib	skin:	n/a
36	chr12:66860050-66860100	GM12891	blood:	n/a
37	chr12:66860050-66860100	SKMC	muscle:	n/a
38	chr12:66860050-66860100	ECC-1	luminal epithelium:	n/a
39	chr12:66859938-66859988	SAEC	small airway:	n/a
40	chr12:66859938-66859988	AG04450	lung:	fetal
41	chr12:66859938-66859988	GM19239	blood:	n/a
42	chr12:66859938-66859988	Hepatocyte	liver:	n/a
43	chr12:66859938-66859988	HIPEpiC	eye:	n/a
44	chr12:66859938-66859988	HRCEpiC	kidney:	n/a
45	chr12:66859938-66859988	Jurkat	blood:	n/a
46	chr12:66859938-66859988	BJ	skin:	n/a
47	chr12:66859938-66859988	ECC-1	luminal epithelium:	n/a
48	chr12:66860050-66860100	K562	blood:	n/a
49	chr12:66859938-66859988	SKMC	muscle:	n/a
50	chr12:66859938-66859988	HCF	heart:	n/a

No data

Variant related genes	Relation type
GRIP1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12821519	chr12:66859576-66859577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530562964	chr12:66859591-66859592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73137565	chr12:66859604-66859605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564699864	chr12:66859678-66859679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532150836	chr12:66859680-66859681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12227684	chr12:66859742-66859743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562249158	chr12:66859820-66859821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150228168	chr12:66859882-66859883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547963776	chr12:66860077-66860078	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs11176203	chr12:66860088-66860089	Weak transcription Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66844000-66861600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:66846800-66860200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:66849400-66866400	Weak transcription	Pancreas	Pancrea
4	chr12:66849600-66860000	Weak transcription	Esophagus	oesophagus
5	chr12:66853000-66876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:66856800-66859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:66856800-66868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:66858000-66860000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:66860000-66860200	Enhancers	Esophagus	oesophagus

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