Variant report

Variant	nsv973199
Chromosome Location	chr12:29584676-29595774
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	chr12:29581032..29583088-chr12:29583675..29586348,2	K562	blood:
2	chr1:228327057..228327822-chr12:29588102..29589082,2	NB4	blood:

Variant related genes	Relation type
ENSG00000143774	chromatin interactions

Extended variants
information (count: 446 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149291461	chr12:29584719-29584720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540519606	chr12:29584734-29584735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189312590	chr12:29584769-29584770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139816702	chr12:29584780-29584781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1436314	chr12:29584782-29584783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs386761541	chr12:29584845-29584846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1436312	chr12:29584846-29584847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367587555	chr12:29584869-29584870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530900862	chr12:29584925-29584926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117995721	chr12:29584926-29584927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570738310	chr12:29584973-29584974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144531489	chr12:29585042-29585043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528434156	chr12:29585047-29585048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546910966	chr12:29585077-29585078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568364816	chr12:29585100-29585101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559106480	chr12:29585107-29585108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535660581	chr12:29585118-29585119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557261569	chr12:29585121-29585122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568978572	chr12:29585167-29585168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1369899	chr12:29585181-29585182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs541623851	chr12:29585186-29585187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557770498	chr12:29585190-29585191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531906165	chr12:29585273-29585274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540208425	chr12:29585399-29585400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555703610	chr12:29585417-29585418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550136744	chr12:29585446-29585447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73276902	chr12:29585485-29585486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186150880	chr12:29585543-29585544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574812643	chr12:29585580-29585581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531066610	chr12:29585590-29585591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190906899	chr12:29585657-29585658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564576554	chr12:29585658-29585659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34730070	chr12:29585661-29585662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12320998	chr12:29585662-29585663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7965758	chr12:29585743-29585744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181402699	chr12:29585770-29585771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529539171	chr12:29585802-29585803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11833098	chr12:29585875-29585876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569338591	chr12:29585881-29585882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73069511	chr12:29585889-29585890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143654151	chr12:29585895-29585896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7965795	chr12:29585932-29585933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112727673	chr12:29585937-29585938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555395925	chr12:29585940-29585941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574032854	chr12:29585948-29585949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12828155	chr12:29585955-29585956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs12321184	chr12:29585964-29585965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577781070	chr12:29585979-29585980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186949334	chr12:29585986-29585987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545139661	chr12:29586045-29586046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle
2	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:29583400-29587800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:29583600-29588000	Weak transcription	K562	blood
5	chr12:29583600-29588200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:29583800-29585400	Enhancers	Hela-S3	cervix
7	chr12:29583800-29588000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:29584000-29587600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:29587800-29588000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:29588000-29588200	Flanking Active TSS	K562	blood
12	chr12:29588000-29588800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:29588000-29588800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:29588000-29607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
16	chr12:29588200-29588800	Active TSS	K562	blood
17	chr12:29588200-29589000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:29588600-29588800	Enhancers	HepG2	liver
19	chr12:29588800-29589000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:29589000-29590200	Weak transcription	HepG2	liver
21	chr12:29589400-29590000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:29589600-29598200	Weak transcription	HSMM	muscle
23	chr12:29590000-29590200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:29590000-29590200	Enhancers	Liver	Liver
25	chr12:29590200-29590400	Flanking Active TSS	Liver	Liver
26	chr12:29590200-29591000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:29590200-29592800	Enhancers	HepG2	liver
28	chr12:29590400-29590800	Enhancers	Liver	Liver
29	chr12:29590800-29591400	Flanking Active TSS	Liver	Liver
30	chr12:29591000-29591200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:29591200-29591600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:29591400-29591800	Enhancers	Liver	Liver
33	chr12:29591800-29592200	Enhancers	Fetal Intestine Large	intestine
34	chr12:29591800-29592800	Flanking Active TSS	Liver	Liver
35	chr12:29591800-29593400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:29592800-29593000	Enhancers	Liver	Liver
37	chr12:29593400-29594200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:29593800-29594200	ZNF genes & repeats	Left Ventricle	heart
39	chr12:29594200-29600600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart

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