Variant report

Variant	esv3431442
Chromosome Location	chr12:56341589-56342193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56336817..56339592-chr12:56341628..56344716,3	K562	blood:
2	chr12:56336247..56338243-chr12:56340608..56343570,2	MCF-7	breast:
3	chr12:56340014..56342569-chr12:56344592..56347286,3	K562	blood:
4	chr12:56341477..56343733-chr12:56348894..56351545,2	K562	blood:
5	chr12:56340014..56342569-chr12:56344819..56347286,2	K562	blood:
6	chr12:56206113..56207643-chr12:56339999..56341988,2	K562	blood:
7	chr12:56328221..56329747-chr12:56339038..56341881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065357	chromatin interactions
ENSG00000185664	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538623718	chr12:56341597-56341598	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565348234	chr12:56341607-56341608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2101718	chr12:56341609-56341610	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183292542	chr12:56341641-56341642	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540085040	chr12:56341643-56341644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529850949	chr12:56341644-56341645	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561536900	chr12:56341666-56341667	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188506133	chr12:56341667-56341668	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146638604	chr12:56341719-56341720	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562408328	chr12:56341720-56341721	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111638636	chr12:56341721-56341722	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368870050	chr12:56341730-56341731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141325411	chr12:56341731-56341732	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs193168174	chr12:56341734-56341735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552567612	chr12:56341755-56341756	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185055374	chr12:56341826-56341827	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527977629	chr12:56341875-56341876	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549655838	chr12:56341942-56341943	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs71227282	chr12:56341952-56341953	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188270407	chr12:56342041-56342042	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567859927	chr12:56342055-56342056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191515099	chr12:56342102-56342103	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200356613	chr12:56342185-56342186	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56326400-56345000	Weak transcription	Ovary	ovary
2	chr12:56328800-56352200	Weak transcription	Small Intestine	intestine
3	chr12:56334000-56345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:56334000-56349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:56334200-56343600	Strong transcription	Primary B cells from cord blood	blood
6	chr12:56334200-56345400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:56334200-56349800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:56334400-56343600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:56334400-56343800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:56334400-56345000	Weak transcription	Left Ventricle	heart
11	chr12:56334400-56345200	Weak transcription	Lung	lung
12	chr12:56334400-56345400	Weak transcription	Liver	Liver
13	chr12:56334400-56347400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:56334400-56348400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:56334400-56349400	Strong transcription	Thymus	Thymus
16	chr12:56334600-56342400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:56334600-56342600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr12:56334600-56343000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:56334600-56343200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:56334600-56343400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:56334600-56343600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:56334600-56343600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:56334600-56344800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:56334600-56345000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:56334600-56345000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:56334600-56345000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:56334600-56345000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:56334600-56345200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:56334600-56345200	Weak transcription	Pancreas	Pancrea
30	chr12:56334600-56345200	Weak transcription	Right Ventricle	heart
31	chr12:56334600-56345200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:56334600-56345600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:56334600-56345600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:56334600-56345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:56334600-56345800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:56334600-56345800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:56334600-56346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:56334600-56346400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:56334600-56346600	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:56334600-56347400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:56334600-56348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:56334600-56348400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:56334600-56349000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:56334600-56349000	Weak transcription	Brain Substantia Nigra	brain
45	chr12:56334600-56349000	Strong transcription	NHEK	skin
46	chr12:56334600-56349400	Strong transcription	Dnd41	blood
47	chr12:56334600-56349800	Weak transcription	Stomach Mucosa	stomach
48	chr12:56334800-56345000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:56334800-56345000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:56334800-56345000	Weak transcription	Brain Germinal Matrix	brain

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