Variant report

Variant	nsv983334
Chromosome Location	chr12:57377803-57380748
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	chr12:57233059..57234536-chr12:57380344..57382025,8	K562	blood:
2	chr12:57144393..57147298-chr12:57377477..57379944,2	MCF-7	breast:
3	chr12:57374244..57376394-chr12:57378626..57381125,2	MCF-7	breast:
4	chr12:57349736..57351385-chr12:57380003..57382609,2	MCF-7	breast:
5	chr12:57023280..57025743-chr12:57378551..57381481,2	MCF-7	breast:
6	chr12:57232476..57232993-chr12:57380642..57381474,2	MCF-7	breast:
7	chr12:57378196..57379774-chr12:57392369..57394699,2	MCF-7	breast:
8	chr12:57232928..57235574-chr12:57379321..57382266,3	MCF-7	breast:
9	chr12:57380165..57383091-chr12:57391250..57394280,3	K562	blood:
10	chr12:57116564..57119483-chr12:57379649..57381889,2	MCF-7	breast:
11	chr12:57233353..57235203-chr12:57380743..57382388,18	MCF-7	breast:
12	chr12:57347827..57349628-chr12:57379616..57381539,3	MCF-7	breast:
13	chr12:57156608..57159061-chr12:57379164..57381627,2	MCF-7	breast:
14	chr12:57350735..57353259-chr12:57379403..57381219,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139547	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000025423	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000198056	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12818342	chr12:57377806-57377807	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576362915	chr12:57377828-57377829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76761422	chr12:57377832-57377833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145210009	chr12:57377842-57377843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs114255903	chr12:57377891-57377892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529369431	chr12:57377895-57377896	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541256920	chr12:57377901-57377902	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147202167	chr12:57377908-57377909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140523723	chr12:57377963-57377964	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549073752	chr12:57377971-57377972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs703821	chr12:57377986-57377987	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531640556	chr12:57377996-57377997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144279674	chr12:57378026-57378027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571640959	chr12:57378046-57378047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs538834789	chr12:57378048-57378049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368268673	chr12:57378061-57378062	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565601557	chr12:57378079-57378080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145515647	chr12:57378142-57378143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374707492	chr12:57378173-57378174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562641826	chr12:57378329-57378330	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554220120	chr12:57378338-57378339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2257997	chr12:57378407-57378408	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531817461	chr12:57378462-57378463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537086138	chr12:57378474-57378475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551545973	chr12:57378487-57378488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577241063	chr12:57378488-57378489	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540841606	chr12:57378570-57378571	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371095297	chr12:57379312-57379313	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs559516132	chr12:57379323-57379324	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs572409507	chr12:57379330-57379331	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs181484076	chr12:57379331-57379332	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs561085948	chr12:57379365-57379366	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531581884	chr12:57379409-57379410	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs549790570	chr12:57379430-57379431	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs377099125	chr12:57379456-57379457	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs371992084	chr12:57379505-57379506	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs377147823	chr12:57379507-57379508	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs565209529	chr12:57379513-57379514	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs571864440	chr12:57379514-57379515	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs547631741	chr12:57379544-57379545	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs566263837	chr12:57379555-57379556	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs369799785	chr12:57379583-57379584	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs548299663	chr12:57379592-57379593	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs28589663	chr12:57379616-57379617	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537024812	chr12:57379626-57379627	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs546282860	chr12:57379627-57379628	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs566422757	chr12:57379652-57379653	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs2923301	chr12:57379667-57379668	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs577029847	chr12:57379692-57379693	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs2923302	chr12:57379712-57379713	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	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	chr12:57361800-57389000	Weak transcription	Aorta	Aorta
2	chr12:57370800-57379800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:57370800-57381200	Weak transcription	Brain Anterior Caudate	brain
4	chr12:57371600-57381000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:57372000-57384800	Weak transcription	Gastric	stomach
6	chr12:57372200-57384800	Weak transcription	Primary T cells from cord blood	blood
7	chr12:57372600-57381000	Weak transcription	Spleen	Spleen
8	chr12:57372800-57381000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:57373200-57388600	Weak transcription	Fetal Brain Female	brain
10	chr12:57373200-57388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:57374400-57379600	Weak transcription	HMEC	breast
12	chr12:57374400-57379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:57374600-57379200	Weak transcription	NHEK	skin
14	chr12:57374600-57379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:57374600-57379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:57375200-57381600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:57375600-57379800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:57377000-57381000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:57377000-57395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:57379200-57382400	Enhancers	NHEK	skin
21	chr12:57379600-57379800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:57379600-57379800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:57379600-57379800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:57379600-57379800	Enhancers	NH-A	brain
25	chr12:57379600-57380000	Enhancers	HSMMtube	muscle
26	chr12:57379600-57380200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:57379600-57380200	Enhancers	Placenta	Placenta
28	chr12:57379600-57380200	Enhancers	Thymus	Thymus
29	chr12:57379600-57380200	Enhancers	Hela-S3	cervix
30	chr12:57379600-57380200	Enhancers	HepG2	liver
31	chr12:57379600-57380400	Enhancers	A549	lung
32	chr12:57379600-57380600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:57379600-57381400	Enhancers	HMEC	breast
34	chr12:57379600-57381400	Enhancers	K562	blood
35	chr12:57379600-57382400	Enhancers	Fetal Thymus	thymus
36	chr12:57379800-57380000	Enhancers	Fetal Intestine Large	intestine
37	chr12:57379800-57380200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:57379800-57381200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:57379800-57381200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:57379800-57381400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:57379800-57381400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:57379800-57381400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:57379800-57381400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:57379800-57381600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:57380000-57381400	Enhancers	Esophagus	oesophagus
46	chr12:57380000-57381600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:57380000-57381800	Weak transcription	HSMMtube	muscle
48	chr12:57380000-57382200	Enhancers	Liver	Liver
49	chr12:57380000-57391400	Weak transcription	Fetal Intestine Large	intestine
50	chr12:57380200-57381000	Weak transcription	Thymus	Thymus

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