Variant report

Variant	nsv976609
Chromosome Location	chr12:49223333-49224534
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49217312..49223334-chr12:49223804..49229177,10	MCF-7	breast:
2	chr12:49219851..49223699-chr12:49232971..49235406,3	MCF-7	breast:
3	chr12:49213927..49217997-chr12:49220866..49225081,6	K562	blood:
4	chr12:49223817..49225948-chr12:49327088..49329246,2	MCF-7	breast:
5	chr12:49219923..49221746-chr12:49222016..49224026,2	K562	blood:
6	chr12:49211671..49216078-chr12:49223480..49227983,7	MCF-7	breast:
7	chr12:49220757..49224194-chr12:49244606..49248559,4	MCF-7	breast:
8	chr12:49217312..49223334-chr12:49223804..49229177,10	MCF-7	breast:
9	chr12:49223352..49226307-chr12:49326935..49329370,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DDX23	hsa-miR-361-5p	chr12:49223565-49223586

Variant related genes	Relation type
ENSG00000174243	chromatin interactions
ENSG00000167535	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188348734	chr12:49223440-49223441	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575804004	chr12:49223451-49223452	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138460113	chr12:49223452-49223453	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs17123349	chr12:49223541-49223542	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531423763	chr12:49223549-49223550	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150677223	chr12:49223550-49223551	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs115480223	chr12:49223631-49223632	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145451990	chr12:49223640-49223641	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114420242	chr12:49223649-49223650	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs114985748	chr12:49223650-49223651	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560352522	chr12:49223660-49223661	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11551273	chr12:49223678-49223679	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77301571	chr12:49223681-49223682	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543844951	chr12:49223687-49223688	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145620140	chr12:49223696-49223697	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs386376446	chr12:49223697-49223698	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7164	chr12:49223719-49223720	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs140121807	chr12:49223725-49223726	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144059085	chr12:49223726-49223727	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11533	chr12:49223768-49223769	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567153144	chr12:49223771-49223772	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529812199	chr12:49223839-49223840	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546306377	chr12:49223848-49223849	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112084114	chr12:49223882-49223883	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529441941	chr12:49223911-49223912	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532722362	chr12:49223912-49223913	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538633367	chr12:49224040-49224041	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547923967	chr12:49224041-49224042	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs193264880	chr12:49224057-49224058	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185371122	chr12:49224067-49224068	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs11551274	chr12:49224108-49224109	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112450197	chr12:49224188-49224189	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368791808	chr12:49224224-49224225	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370078353	chr12:49224236-49224237	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373828199	chr12:49224237-49224238	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555277488	chr12:49224247-49224248	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367918513	chr12:49224313-49224314	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142808589	chr12:49224325-49224326	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146973565	chr12:49224336-49224337	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113929889	chr12:49224348-49224349	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375413325	chr12:49224387-49224388	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368500113	chr12:49224413-49224414	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372110161	chr12:49224507-49224508	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376711639	chr12:49224514-49224515	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370058428	chr12:49224522-49224523	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371243993	chr12:49224527-49224528	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	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
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49212600-49223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:49212800-49224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:49213000-49223400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:49213000-49226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:49213000-49231200	Weak transcription	Right Atrium	heart
6	chr12:49213200-49223800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:49213200-49223800	Weak transcription	HSMM	muscle
8	chr12:49213400-49224800	Weak transcription	Fetal Kidney	kidney
9	chr12:49213400-49226000	Weak transcription	Psoas Muscle	Psoas
10	chr12:49214600-49234800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
12	chr12:49215400-49235400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:49215800-49235000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:49216200-49235400	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:49216400-49224200	Weak transcription	Small Intestine	intestine
18	chr12:49216800-49228600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:49216800-49234200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:49216800-49235400	Strong transcription	Fetal Intestine Large	intestine
21	chr12:49216800-49238600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:49217000-49234200	Strong transcription	Ovary	ovary
26	chr12:49217000-49234400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:49217000-49234400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr12:49217000-49234800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr12:49217000-49235200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
31	chr12:49217200-49228400	Strong transcription	Colonic Mucosa	Colon
32	chr12:49217200-49228400	Strong transcription	NHLF	lung
33	chr12:49217200-49234400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:49217200-49235000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:49217200-49235400	Strong transcription	Adipose Nuclei	Adipose
36	chr12:49217200-49235600	Strong transcription	Placenta	Placenta
37	chr12:49217400-49235000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:49217400-49235200	Strong transcription	Brain Germinal Matrix	brain
39	chr12:49217400-49235200	Strong transcription	Thymus	Thymus
40	chr12:49217400-49235400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:49217400-49241000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:49217600-49234800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:49217800-49235000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr12:49218000-49234400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:49218000-49235000	Strong transcription	Dnd41	blood
46	chr12:49218200-49228600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:49218200-49241200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:49218400-49223800	Weak transcription	K562	blood
49	chr12:49218400-49235400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:49218600-49223400	Weak transcription	Stomach Mucosa	stomach

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