Variant report

Variant	esv3490751
Chromosome Location	chr12:56030785-56035633
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56019572..56022533-chr12:56030768..56032739,2	K562	blood:
2	chr12:56031467..56034083-chr12:56034247..56036022,2	K562	blood:
3	chr12:56031467..56034083-chr12:56034247..56036022,2	K562	blood:
4	chr12:56034180..56037174-chr12:56318793..56320905,2	K562	blood:
5	chr12:56030702..56032537-chr12:56035448..56036952,2	K562	blood:
6	chr12:56030702..56032537-chr12:56035448..56036952,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA7-1	chr12:56032696-56033100	ENSG00000258921.1

No data

Variant related genes	Relation type
ENSG00000170473	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200645789	chr12:56030812-56030813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12231050	chr12:56030814-56030815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144785225	chr12:56030826-56030827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575839585	chr12:56030859-56030860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140126802	chr12:56030865-56030866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111904430	chr12:56030866-56030867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78001418	chr12:56030870-56030871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576565508	chr12:56030887-56030888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541088749	chr12:56030906-56030907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7305623	chr12:56030921-56030922	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141096636	chr12:56030922-56030923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113376614	chr12:56030926-56030927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10876838	chr12:56030938-56030939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs369935856	chr12:56030939-56030940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542168115	chr12:56030985-56030986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372486914	chr12:56030993-56030994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375803515	chr12:56030996-56030997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564012960	chr12:56030998-56030999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150947336	chr12:56031007-56031008	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs140777781	chr12:56031008-56031009	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs372576004	chr12:56031009-56031010	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs372681591	chr12:56031012-56031013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs532362543	chr12:56031017-56031018	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs150125975	chr12:56031026-56031027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs138659594	chr12:56031036-56031037	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs140357644	chr12:56031042-56031043	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542864744	chr12:56031043-56031044	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147085036	chr12:56031054-56031055	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs202201288	chr12:56031058-56031059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs201015866	chr12:56031064-56031065	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs145537321	chr12:56031068-56031069	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs377331592	chr12:56031069-56031070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs566208675	chr12:56031081-56031082	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs74483058	chr12:56031093-56031094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs149553341	chr12:56031101-56031102	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs144238113	chr12:56031102-56031103	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs148311548	chr12:56031104-56031105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs141463967	chr12:56031111-56031112	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs376530587	chr12:56031114-56031115	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs536934845	chr12:56031132-56031133	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs147492547	chr12:56031143-56031144	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs201233340	chr12:56031151-56031152	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs534424039	chr12:56031155-56031156	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs140061460	chr12:56031167-56031168	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs144018856	chr12:56031191-56031192	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs191970757	chr12:56031201-56031202	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs147317388	chr12:56031203-56031204	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs201512042	chr12:56031204-56031205	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs374333859	chr12:56031259-56031260	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs141032808	chr12:56031264-56031265	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56023200-56036800	Weak transcription	Spleen	Spleen
2	chr12:56025800-56035200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:56026600-56030800	Weak transcription	Right Atrium	heart
4	chr12:56030200-56031000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:56030400-56031000	Enhancers	Left Ventricle	heart
6	chr12:56030400-56031000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:56030600-56030800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:56030600-56031400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:56030600-56032600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:56030800-56031000	Enhancers	Esophagus	oesophagus
11	chr12:56030800-56031200	Enhancers	Right Atrium	heart
12	chr12:56030800-56035800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:56031000-56031800	Bivalent Enhancer	Dnd41	blood
14	chr12:56031000-56033800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:56031000-56034400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:56031000-56035200	Weak transcription	Left Ventricle	heart
17	chr12:56031200-56032400	Weak transcription	Right Atrium	heart
18	chr12:56031400-56032200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr12:56032200-56036200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:56032400-56032600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:56032400-56032800	Enhancers	Right Atrium	heart
22	chr12:56032600-56036000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:56032800-56040000	Weak transcription	Right Atrium	heart
24	chr12:56033600-56033800	Enhancers	Primary B cells from cord blood	blood
25	chr12:56033800-56041400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:56034000-56034400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:56034000-56034800	Weak transcription	Primary B cells from cord blood	blood
28	chr12:56034000-56035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:56034400-56034600	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:56034400-56035000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:56034800-56035600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:56034800-56035800	Enhancers	Primary B cells from cord blood	blood
33	chr12:56034800-56037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:56035000-56037400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr12:56035000-56037600	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:56035200-56038600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr12:56035400-56035600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:56035400-56035800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:56035400-56036200	Enhancers	GM12878-XiMat	blood
40	chr12:56035400-56036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:56035400-56036800	Enhancers	Fetal Muscle Leg	muscle
42	chr12:56035400-56037400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:56035400-56040200	Weak transcription	Gastric	stomach
44	chr12:56035600-56035800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:56035600-56036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:56035600-56037200	Enhancers	Primary hematopoietic stem cells	blood
47	chr12:56035600-56040200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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