Variant report

Variant	esv3362457
Chromosome Location	chr12:40644629-40645090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40642938-40650987..12:40793507-40812339	K562	blood:
2	chr1:153939261..153941119-chr12:40643887..40646371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205592	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000143570	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368305164	chr12:40644634-40644635	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs560356204	chr12:40644705-40644706	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs17443414	chr12:40644752-40644753	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs17443421	chr12:40644785-40644786	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552424515	chr12:40644795-40644796	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs575085073	chr12:40644805-40644806	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs190754484	chr12:40644823-40644824	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs531784787	chr12:40644846-40644847	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs7134379	chr12:40644874-40644875	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs377025451	chr12:40644875-40644876	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs568776805	chr12:40644960-40644961	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs182580341	chr12:40644967-40644968	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs547951505	chr12:40644971-40644972	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146396419	chr12:40644973-40644974	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139788905	chr12:40644977-40644978	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs17490748	chr12:40645004-40645005	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs202079711	chr12:40645029-40645030	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs558415356	chr12:40645047-40645048	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs78501232	chr12:40645075-40645076	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs199981130	chr12:40645083-40645084	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
3	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
7	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
11	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:40631200-40646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:40632000-40655200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:40633400-40646600	Weak transcription	Ovary	ovary
17	chr12:40633400-40654200	Weak transcription	Aorta	Aorta
18	chr12:40635000-40647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:40635000-40647400	Weak transcription	Lung	lung
20	chr12:40635200-40648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:40636200-40648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:40636200-40648200	Weak transcription	NHDF-Ad	bronchial
23	chr12:40637400-40647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
26	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
27	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:40642800-40645600	Weak transcription	A549	lung
30	chr12:40643000-40647400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:40643000-40659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:40643400-40655200	Strong transcription	Primary B cells from cord blood	blood
33	chr12:40643600-40646800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:40643600-40647400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:40643600-40649200	Strong transcription	Liver	Liver
36	chr12:40643800-40645000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:40643800-40652000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:40644600-40645200	Weak transcription	Brain Angular Gyrus	brain
39	chr12:40644600-40645400	Weak transcription	Adipose Nuclei	Adipose
40	chr12:40644600-40646400	Weak transcription	Gastric	stomach
41	chr12:40644600-40648200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:40644600-40648600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:40645000-40646600	Weak transcription	Stomach Smooth Muscle	stomach

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