Variant report

Variant	nsv976628
Chromosome Location	chr12:57056791-57058595
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57038309..57041769-chr12:57058275..57062182,3	MCF-7	breast:
2	chr12:57039411..57041030-chr12:57056233..57058576,2	K562	blood:
3	chr12:57036419..57038749-chr12:57058085..57061002,2	K562	blood:
4	chr12:56916195..56918397-chr12:57055172..57057323,2	K562	blood:
5	chr12:57057109..57062087-chr12:57076163..57079993,5	MCF-7	breast:
6	chr12:57041210..57043834-chr12:57056850..57058551,2	K562	blood:
7	chr12:57055330..57057220-chr12:57057882..57060273,3	MCF-7	breast:
8	chr12:57055330..57057220-chr12:57057882..57060273,3	MCF-7	breast:
9	chr12:57057875..57064396-chr12:57067862..57074098,12	K562	blood:
10	chr12:57054945..57056798-chr12:57071104..57072974,2	K562	blood:
11	chr12:57051978..57057362-chr12:57059430..57061597,6	K562	blood:
12	chr12:57054749..57057054-chr12:57058615..57061624,4	K562	blood:
13	chr12:57057213..57059429-chr12:57063749..57066712,2	MCF-7	breast:
14	chr12:57036157..57038877-chr12:57054362..57057150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207031	chromatin interactions
ENSG00000241217	chromatin interactions
ENSG00000110955	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141810279	chr12:57056834-57056835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562772859	chr12:57056840-57056841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549134901	chr12:57056841-57056842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567316433	chr12:57056875-57056876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180705825	chr12:57056877-57056878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185608972	chr12:57056878-57056879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571512293	chr12:57056904-57056905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560143569	chr12:57056929-57056930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373840462	chr12:57056964-57056965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538832511	chr12:57056981-57056982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554464776	chr12:57057127-57057128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572555498	chr12:57057147-57057148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190513189	chr12:57057165-57057166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1049902	chr12:57057185-57057186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1049900	chr12:57057205-57057206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536931575	chr12:57057218-57057219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554316198	chr12:57057231-57057232	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148473134	chr12:57057271-57057272	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543545880	chr12:57057327-57057328	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564946102	chr12:57057364-57057365	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577125502	chr12:57057407-57057408	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs540901271	chr12:57057421-57057422	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs199897121	chr12:57057440-57057441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559475483	chr12:57057444-57057445	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142700663	chr12:57057466-57057467	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs15258	chr12:57057494-57057495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548453094	chr12:57057502-57057503	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201495992	chr12:57057511-57057512	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146472615	chr12:57057519-57057520	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9290	chr12:57057567-57057568	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77840020	chr12:57057607-57057608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369169502	chr12:57057626-57057627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549888386	chr12:57057655-57057656	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11550105	chr12:57057656-57057657	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571375908	chr12:57057662-57057663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201005890	chr12:57057692-57057693	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539110002	chr12:57057714-57057715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555600691	chr12:57057727-57057728	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs373725748	chr12:57057728-57057729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181617469	chr12:57057746-57057747	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111497772	chr12:57057770-57057771	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544172575	chr12:57057845-57057846	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs185805503	chr12:57057861-57057862	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536584681	chr12:57057870-57057871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200932308	chr12:57057892-57057893	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370002532	chr12:57057895-57057896	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555261442	chr12:57057927-57057928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372378981	chr12:57057978-57057979	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534916980	chr12:57058010-57058011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537010205	chr12:57058011-57058012	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	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

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57039800-57059200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:57040400-57059200	Weak transcription	Aorta	Aorta
3	chr12:57040400-57059400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:57040400-57069400	Weak transcription	Right Atrium	heart
5	chr12:57040600-57056800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:57040600-57058200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:57040600-57058200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:57040600-57058800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:57046200-57059400	Weak transcription	Lung	lung
10	chr12:57048800-57056800	Weak transcription	Dnd41	blood
11	chr12:57051400-57056800	Weak transcription	HSMM	muscle
12	chr12:57051400-57057800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:57051400-57058000	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:57051400-57058400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:57051400-57058600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:57052000-57059200	Weak transcription	Spleen	Spleen
17	chr12:57052400-57059200	Weak transcription	NHLF	lung
18	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:57052600-57059800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:57053000-57060200	Weak transcription	Right Ventricle	heart
21	chr12:57053200-57057600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:57053600-57056800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:57053800-57056800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:57053800-57056800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:57053800-57056800	Weak transcription	Fetal Kidney	kidney
26	chr12:57054000-57056800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:57054000-57056800	Weak transcription	Brain Anterior Caudate	brain
28	chr12:57054000-57057400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:57054000-57059400	Weak transcription	Ovary	ovary
30	chr12:57054200-57064200	Weak transcription	Small Intestine	intestine
31	chr12:57054200-57069600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:57054400-57058600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:57054400-57059400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:57054600-57067000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr12:57054800-57056800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:57054800-57056800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:57054800-57056800	Weak transcription	NHDF-Ad	bronchial
38	chr12:57054800-57059200	Weak transcription	Pancreas	Pancrea
39	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
40	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:57055000-57056800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:57055000-57056800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:57055000-57056800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:57055000-57056800	Weak transcription	Primary B cells from cord blood	blood
45	chr12:57055000-57056800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:57055000-57056800	Weak transcription	K562	blood
47	chr12:57055000-57057000	Weak transcription	Hela-S3	cervix
48	chr12:57055000-57060200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:57055200-57056800	Weak transcription	NHEK	skin
50	chr12:57055200-57057000	Weak transcription	H1 Cell Line	embryonic stem cell

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