Variant report

Variant	esv3356604
Chromosome Location	chr12:56299285-56300333
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	chr12:56299851..56302754-chr12:56309766..56311524,2	K562	blood:
2	chr12:56299195..56301472-chr12:56319944..56322489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170473	chromatin interactions
ENSG00000065357	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539855150	chr12:56299323-56299324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561712153	chr12:56299360-56299361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529587597	chr12:56299363-56299364	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550840980	chr12:56299365-56299366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569141030	chr12:56299378-56299379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533363363	chr12:56299390-56299391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551924369	chr12:56299429-56299430	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190939921	chr12:56299433-56299434	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543445307	chr12:56299442-56299443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534258980	chr12:56299444-56299445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs71447767	chr12:56299497-56299498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200128849	chr12:56299506-56299507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201178961	chr12:56299508-56299509	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145094953	chr12:56299509-56299510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147571383	chr12:56299518-56299519	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs58962927	chr12:56299523-56299524	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs28859651	chr12:56299524-56299525	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28810443	chr12:56299525-56299526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs199877321	chr12:56299563-56299564	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189123197	chr12:56299638-56299639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201108623	chr12:56299645-56299646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558322795	chr12:56299646-56299647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191872260	chr12:56299660-56299661	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs57568153	chr12:56299688-56299689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs28877359	chr12:56299689-56299690	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs58066367	chr12:56299691-56299692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs28885184	chr12:56299705-56299706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs60439555	chr12:56299717-56299718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11609567	chr12:56299718-56299719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs58314400	chr12:56299720-56299721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540638216	chr12:56299721-56299722	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535779778	chr12:56299731-56299732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34624557	chr12:56299732-56299733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28811723	chr12:56299734-56299735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs60268872	chr12:56299746-56299747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28801479	chr12:56299747-56299748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs58411786	chr12:56299749-56299750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574371988	chr12:56299767-56299768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs12227652	chr12:56299769-56299770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557279573	chr12:56299786-56299787	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575577613	chr12:56299802-56299803	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115499435	chr12:56299917-56299918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs191857290	chr12:56299958-56299959	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs58895827	chr12:56299983-56299984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540317905	chr12:56300027-56300028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs183983698	chr12:56300078-56300079	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528842222	chr12:56300089-56300090	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77858935	chr12:56300138-56300139	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562864181	chr12:56300177-56300178	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146891144	chr12:56300188-56300189	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
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
Hirschsprung''s Disease	21712996	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
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	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

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
3	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
4	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:56292800-56316000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:56293000-56307800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:56293200-56299800	Weak transcription	HSMMtube	muscle
8	chr12:56293200-56307000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:56293200-56307200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:56293200-56307400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:56293400-56300000	Weak transcription	A549	lung
12	chr12:56293600-56319200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:56293800-56319600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:56294200-56302600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:56294200-56319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:56294400-56302800	Weak transcription	Stomach Mucosa	stomach
17	chr12:56294400-56313800	Weak transcription	Ovary	ovary
18	chr12:56294400-56319600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:56294600-56308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:56296000-56299800	Weak transcription	NHEK	skin
21	chr12:56296000-56301400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:56296000-56307800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:56296000-56319600	Weak transcription	Right Ventricle	heart
24	chr12:56296200-56303000	Weak transcription	Small Intestine	intestine
25	chr12:56296200-56319400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:56296400-56302600	Weak transcription	K562	blood
27	chr12:56296800-56306800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:56296800-56319600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:56297000-56315800	Weak transcription	Aorta	Aorta
30	chr12:56297200-56300000	Weak transcription	NHLF	lung
31	chr12:56297200-56301800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:56297200-56302800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:56297200-56305400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:56297200-56306200	Weak transcription	Placenta	Placenta
35	chr12:56297200-56306800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:56297200-56306800	Weak transcription	Primary T cells from cord blood	blood
37	chr12:56297200-56306800	Weak transcription	HSMM	muscle
38	chr12:56297200-56307600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:56297200-56315600	Weak transcription	Fetal Brain Female	brain
40	chr12:56297200-56315600	Weak transcription	Lung	lung
41	chr12:56297200-56315800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:56297200-56319200	Weak transcription	Colonic Mucosa	Colon
43	chr12:56297200-56319600	Weak transcription	Brain Germinal Matrix	brain
44	chr12:56297200-56319600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:56297200-56320000	Weak transcription	Gastric	stomach
46	chr12:56297200-56320000	Weak transcription	Spleen	Spleen
47	chr12:56297400-56299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:56297400-56299800	Weak transcription	HMEC	breast
49	chr12:56297400-56299800	Weak transcription	NHDF-Ad	bronchial
50	chr12:56297400-56299800	Weak transcription	Osteobl	bone

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