Variant report

Variant	nsv973073
Chromosome Location	chr12:56373818-56374702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56372410..56374050-chr12:56374404..56376461,2	MCF-7	breast:
2	chr12:56350213..56352992-chr12:56373952..56376823,2	MCF-7	breast:
3	chr12:56222612..56225517-chr12:56372520..56376647,5	MCF-7	breast:
4	chr12:56320862..56327055-chr12:56370927..56377943,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065357	chromatin interactions
ENSG00000237493	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000182796	chromatin interactions
ENSG00000185664	chromatin interactions
ENSG00000135392	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146506291	chr12:56373857-56373858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs191507048	chr12:56373883-56373884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs549080730	chr12:56373906-56373907	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs567290799	chr12:56373926-56373927	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs182723347	chr12:56373933-56373934	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs550499211	chr12:56373992-56373993	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs571852327	chr12:56374042-56374043	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs187849119	chr12:56374048-56374049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs553961820	chr12:56374129-56374130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs565907421	chr12:56374136-56374137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs551281874	chr12:56374144-56374145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs112206091	chr12:56374165-56374166	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs536375168	chr12:56374181-56374182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs554749366	chr12:56374198-56374199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs576423548	chr12:56374207-56374208	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs543447878	chr12:56374213-56374214	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs558863633	chr12:56374237-56374238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs62621109	chr12:56374277-56374278	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs578004213	chr12:56374305-56374306	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs545286101	chr12:56374307-56374308	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs67594137	chr12:56374318-56374319	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs536934902	chr12:56374319-56374320	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs527469139	chr12:56374367-56374368	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs193126791	chr12:56374373-56374374	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs149752114	chr12:56374381-56374382	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs531390991	chr12:56374382-56374383	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs549522524	chr12:56374475-56374476	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs185622977	chr12:56374530-56374531	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs377645083	chr12:56374541-56374542	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs559069975	chr12:56374544-56374545	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs547663039	chr12:56374553-56374554	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs565967120	chr12:56374580-56374581	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs536437912	chr12:56374601-56374602	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs76533870	chr12:56374612-56374613	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs556866454	chr12:56374614-56374615	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs555091198	chr12:56374657-56374658	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs570052818	chr12:56374687-56374688	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs773109	chr12:56374695-56374696	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	17982442	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
Liposarcoma	21253554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56368600-56374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:56368600-56375400	Weak transcription	Lung	lung
3	chr12:56368600-56383200	Weak transcription	Gastric	stomach
4	chr12:56368800-56374200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:56368800-56379000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:56369000-56374000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:56369000-56383600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:56369200-56374000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:56369200-56374000	Weak transcription	HSMMtube	muscle
10	chr12:56369200-56374200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:56369200-56375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:56369200-56375200	Weak transcription	A549	lung
13	chr12:56369200-56376200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:56369200-56376200	Weak transcription	NHDF-Ad	bronchial
15	chr12:56369200-56379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:56369200-56380000	Weak transcription	Right Ventricle	heart
17	chr12:56369200-56380400	Weak transcription	Aorta	Aorta
18	chr12:56369200-56383600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:56369200-56384600	Weak transcription	Psoas Muscle	Psoas
20	chr12:56369400-56374200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:56369400-56374200	Weak transcription	Esophagus	oesophagus
22	chr12:56369400-56374200	Weak transcription	Spleen	Spleen
23	chr12:56369400-56374400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:56369400-56375200	Weak transcription	Fetal Brain Female	brain
25	chr12:56369400-56375200	Weak transcription	Fetal Kidney	kidney
26	chr12:56369400-56379400	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:56369400-56381000	Weak transcription	Small Intestine	intestine
28	chr12:56369400-56383400	Weak transcription	Pancreas	Pancrea
29	chr12:56369400-56384200	Weak transcription	Fetal Brain Male	brain
30	chr12:56369400-56389400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:56369800-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:56370000-56375200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:56370000-56376400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:56370000-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:56370000-56389600	Strong transcription	Fetal Thymus	thymus
36	chr12:56370200-56375400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:56370200-56375400	Strong transcription	NHEK	skin
38	chr12:56370200-56389600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr12:56370400-56374000	Weak transcription	Thymus	Thymus
40	chr12:56370400-56374200	Weak transcription	Brain Angular Gyrus	brain
41	chr12:56370400-56374400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:56370400-56374600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:56370400-56375000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:56370400-56385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:56370400-56388400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:56370600-56374200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:56370600-56375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:56370600-56376200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:56370600-56376400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:56370600-56379000	Weak transcription	Brain Hippocampus Middle	brain

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