Variant report

Variant	esv13560
Chromosome Location	chr12:57344349-57352033
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57211985..57213673-chr12:57349961..57351583,2	MCF-7	breast:
2	chr12:57327126..57329472-chr12:57342749..57346552,3	MCF-7	breast:
3	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
4	chr12:57342671..57345733-chr12:57481207..57484376,3	MCF-7	breast:
5	chr12:57349108..57350665-chr12:57479276..57481586,2	MCF-7	breast:
6	chr12:57349736..57351385-chr12:57380003..57382609,2	MCF-7	breast:
7	chr12:57347121..57349496-chr12:57383085..57384758,2	MCF-7	breast:
8	chr12:57321673..57323369-chr12:57347515..57349644,2	MCF-7	breast:
9	chr12:57324104..57327319-chr12:57348172..57351129,3	MCF-7	breast:
10	chr12:57347630..57349531-chr12:57349740..57351878,2	MCF-7	breast:
11	chr12:57319872..57321581-chr12:57347777..57350711,2	MCF-7	breast:
12	chr12:57350025..57351752-chr12:57359432..57361772,2	MCF-7	breast:
13	chr12:57081337..57084055-chr12:57347595..57351157,3	MCF-7	breast:
14	chr12:57333897..57335886-chr12:57347612..57349669,2	MCF-7	breast:
15	chr12:57347630..57349531-chr12:57349740..57351878,2	MCF-7	breast:
16	chr12:57327918..57330814-chr12:57348513..57351502,2	MCF-7	breast:
17	chr12:57347864..57350577-chr12:57381566..57383920,2	MCF-7	breast:
18	chr12:57233379..57233935-chr12:57351193..57351985,2	MCF-7	breast:
19	chr12:57347827..57349628-chr12:57379616..57381539,3	MCF-7	breast:
20	chr12:57345020..57348622-chr12:57399414..57401826,4	MCF-7	breast:
21	chr12:57326673..57329540-chr12:57347284..57349028,2	MCF-7	breast:
22	chr12:57327540..57330418-chr12:57347371..57350395,3	K562	blood:
23	chr12:57351085..57351674-chr12:57381073..57381575,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110958	chromatin interactions
ENSG00000166860	chromatin interactions
ENSG00000170426	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000166886	chromatin interactions

Extended variants
information (count: 308 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551009255	chr12:57344410-57344411	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs570818740	chr12:57344429-57344430	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs149949278	chr12:57344450-57344451	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs562849022	chr12:57344459-57344460	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533514272	chr12:57344476-57344477	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs547143519	chr12:57344477-57344478	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560508070	chr12:57344486-57344487	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs527969451	chr12:57344493-57344494	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs539514753	chr12:57344523-57344524	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs374759247	chr12:57344524-57344525	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs150585091	chr12:57344541-57344542	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs567814151	chr12:57344542-57344543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539943037	chr12:57344570-57344571	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538064723	chr12:57344592-57344593	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549801743	chr12:57344734-57344735	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs191605876	chr12:57344735-57344736	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538386188	chr12:57344758-57344759	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs184853198	chr12:57344860-57344861	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs565364204	chr12:57344868-57344869	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs536111931	chr12:57344870-57344871	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs145118280	chr12:57344927-57344928	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs576143665	chr12:57344962-57344963	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs189732492	chr12:57344992-57344993	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs566962716	chr12:57344999-57345000	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570549920	chr12:57345000-57345001	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs558759628	chr12:57345062-57345063	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs117841741	chr12:57345105-57345106	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545548227	chr12:57345107-57345108	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs555662232	chr12:57345195-57345196	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs193051177	chr12:57345316-57345317	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs115026460	chr12:57345323-57345324	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs140459434	chr12:57345349-57345350	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs561427758	chr12:57345375-57345376	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs79452479	chr12:57345407-57345408	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs550098057	chr12:57345471-57345472	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs571541082	chr12:57345493-57345494	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs1055709	chr12:57345514-57345515	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs532054797	chr12:57345519-57345520	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs547110223	chr12:57345563-57345564	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs565300879	chr12:57345581-57345582	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs535851428	chr12:57345588-57345589	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs144421773	chr12:57345593-57345594	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs114061969	chr12:57345669-57345670	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs147795803	chr12:57345720-57345721	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs558453798	chr12:57345721-57345722	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs577135182	chr12:57345727-57345728	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs545484961	chr12:57345731-57345732	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs185227925	chr12:57345735-57345736	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs141279283	chr12:57345743-57345744	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576171858	chr12:57345748-57345749	Weak transcription Strong transcription	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57335600-57349200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:57336000-57347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:57336000-57348400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:57336200-57345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:57336200-57347600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:57336400-57351000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:57340600-57347000	Weak transcription	Left Ventricle	heart
8	chr12:57340800-57345400	Weak transcription	Spleen	Spleen
9	chr12:57341400-57348400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:57342800-57346400	Strong transcription	Liver	Liver
11	chr12:57343200-57344600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:57343200-57345400	Weak transcription	Ovary	ovary
13	chr12:57344000-57344600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:57344200-57346600	Strong transcription	Aorta	Aorta
15	chr12:57344600-57349200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:57344800-57345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:57345400-57345800	Strong transcription	Ovary	ovary
18	chr12:57345400-57346000	Strong transcription	Spleen	Spleen
19	chr12:57345600-57346000	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:57345800-57350400	Weak transcription	Ovary	ovary
21	chr12:57346000-57346200	Weak transcription	Spleen	Spleen
22	chr12:57346000-57347800	Weak transcription	Esophagus	oesophagus
23	chr12:57346000-57354200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:57346200-57346600	Genic enhancers	Spleen	Spleen
25	chr12:57346400-57346600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr12:57346400-57347000	Genic enhancers	Liver	Liver
27	chr12:57346600-57347200	Weak transcription	Spleen	Spleen
28	chr12:57346600-57350400	Weak transcription	Aorta	Aorta
29	chr12:57347000-57349400	Transcr. at gene 5' and 3'	Liver	Liver
30	chr12:57347200-57347600	Enhancers	Spleen	Spleen
31	chr12:57347600-57348600	Weak transcription	Spleen	Spleen
32	chr12:57347800-57348200	Enhancers	Esophagus	oesophagus
33	chr12:57348200-57349400	Weak transcription	Esophagus	oesophagus
34	chr12:57348400-57350000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:57348600-57350000	Enhancers	Spleen	Spleen
36	chr12:57349000-57349200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:57349000-57349400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:57349000-57349800	Enhancers	NHEK	skin
39	chr12:57349000-57350200	Enhancers	A549	lung
40	chr12:57349000-57350800	Enhancers	HepG2	liver
41	chr12:57349000-57352000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:57349200-57349400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:57349200-57349400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:57349200-57349600	Enhancers	HMEC	breast
45	chr12:57349200-57351800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:57349200-57352000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:57349400-57349600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:57349400-57351400	Active TSS	Liver	Liver
49	chr12:57349400-57352600	Enhancers	Esophagus	oesophagus
50	chr12:57349600-57350600	Weak transcription	HMEC	breast

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