Variant report

Variant	nsv438213
Chromosome Location	chr12:57319810-57324496
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57319135..57322195-chr12:57322954..57326796,4	K562	blood:
2	chr12:57320297..57321910-chr12:57382955..57384633,2	MCF-7	breast:
3	chr12:57155856..57157540-chr12:57319760..57321568,2	MCF-7	breast:
4	chr12:57318495..57320635-chr12:57323936..57326743,2	K562	blood:
5	chr12:57319872..57321581-chr12:57347777..57350711,2	MCF-7	breast:
6	chr12:57257052..57259675-chr12:57321965..57323642,2	MCF-7	breast:
7	chr12:57232523..57234649-chr12:57320169..57322431,2	MCF-7	breast:
8	chr12:57324104..57327319-chr12:57348172..57351129,3	MCF-7	breast:
9	chr12:57324317..57327083-chr12:57327867..57330911,4	MCF-7	breast:
10	chr12:57315576..57318465-chr12:57319444..57323573,6	MCF-7	breast:
11	chr12:57296707..57298337-chr12:57317278..57320273,2	MCF-7	breast:
12	chr12:57315724..57318021-chr12:57321769..57324066,3	K562	blood:
13	chr12:57321586..57325004-chr12:57326081..57330015,6	MCF-7	breast:
14	chr12:57117768..57120708-chr12:57319808..57322121,2	MCF-7	breast:
15	chr12:57322265..57324003-chr12:57330480..57332983,2	MCF-7	breast:
16	chr12:57318495..57320635-chr12:57323936..57326743,2	K562	blood:
17	chr12:57319841..57322040-chr12:57335776..57337907,3	MCF-7	breast:
18	chr12:57321673..57323369-chr12:57347515..57349644,2	MCF-7	breast:
19	chr12:57319135..57322195-chr12:57322954..57326796,4	K562	blood:
20	chr12:57319668..57321739-chr12:57328699..57331375,2	MCF-7	breast:
21	chr12:57321799..57323411-chr12:57480929..57483874,2	MCF-7	breast:
22	chr12:57316244..57318021-chr12:57321769..57323601,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196531	chromatin interactions
ENSG00000170426	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000025423	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs844469	chr12:57319810-57319811	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576684066	chr12:57319811-57319812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189188678	chr12:57319817-57319818	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs58822244	chr12:57319818-57319819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576418837	chr12:57319826-57319827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191337276	chr12:57319844-57319845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559024191	chr12:57319868-57319869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553389334	chr12:57319880-57319881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183867174	chr12:57319942-57319943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188535626	chr12:57319954-57319955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563471912	chr12:57319959-57319960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181298445	chr12:57319968-57319969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552432077	chr12:57320011-57320012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565320422	chr12:57320072-57320073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185087258	chr12:57320114-57320115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547768265	chr12:57320170-57320171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566193578	chr12:57320184-57320185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530179940	chr12:57320186-57320187	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12312254	chr12:57320294-57320295	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570213647	chr12:57320335-57320336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs151315449	chr12:57320465-57320466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139431882	chr12:57320549-57320550	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150030148	chr12:57320553-57320554	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570760994	chr12:57320583-57320584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34711498	chr12:57320612-57320613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11172067	chr12:57320618-57320619	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552519821	chr12:57320633-57320634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11613105	chr12:57320636-57320637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs840163	chr12:57320711-57320712	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs189985040	chr12:57320755-57320756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182166083	chr12:57320779-57320780	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575387668	chr12:57320783-57320784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs74729207	chr12:57320842-57320843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145371215	chr12:57320883-57320884	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs187139139	chr12:57320908-57320909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528360174	chr12:57320914-57320915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541459038	chr12:57321002-57321003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142553756	chr12:57321014-57321015	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564848527	chr12:57321028-57321029	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs372722068	chr12:57321033-57321034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530170382	chr12:57321057-57321058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146501616	chr12:57321197-57321198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs7296999	chr12:57321212-57321213	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531134876	chr12:57321240-57321241	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs117527875	chr12:57321242-57321243	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7297019	chr12:57321271-57321272	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534961601	chr12:57321303-57321304	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558891622	chr12:57321351-57321352	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568035516	chr12:57321353-57321354	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147904789	chr12:57321356-57321357	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Thoracic aortic aneurysm	21092924	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57316200-57321400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:57316400-57326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:57317400-57323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57317600-57323000	Weak transcription	Esophagus	oesophagus
5	chr12:57321200-57321600	Active TSS	Gastric	stomach
6	chr12:57321200-57324000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:57321400-57321600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:57321400-57325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:57321400-57325400	Enhancers	K562	blood
10	chr12:57321400-57327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:57321400-57328400	Enhancers	Fetal Thymus	thymus
12	chr12:57321600-57322400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:57321600-57322400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:57321600-57322600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:57321600-57323600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:57321800-57322200	Enhancers	Primary T cells from cord blood	blood
17	chr12:57321800-57322400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:57321800-57322600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:57321800-57322800	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:57322000-57322400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:57322000-57322400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:57322000-57322400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:57322000-57328800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:57322200-57322600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:57322200-57322600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:57322200-57322600	Enhancers	Fetal Kidney	kidney
27	chr12:57322200-57322800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:57322200-57322800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:57322200-57325200	Weak transcription	Primary T cells from cord blood	blood
30	chr12:57322400-57322800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:57322400-57324800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:57322400-57325400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:57322400-57325400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:57322400-57325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:57322600-57323800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:57322600-57325200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:57322600-57325400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:57322600-57325400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:57322600-57325400	Weak transcription	Fetal Kidney	kidney
40	chr12:57322800-57323800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:57322800-57325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:57322800-57325400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:57323000-57324000	Strong transcription	Esophagus	oesophagus
44	chr12:57323000-57324200	Enhancers	Spleen	Spleen
45	chr12:57323200-57325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:57323400-57323600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:57323400-57324400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:57323600-57325400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:57323800-57324000	Enhancers	Placenta	Placenta
50	chr12:57323800-57324400	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links