Variant report

Variant	nsv557794
Chromosome Location	chr12:24964383-24970708
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:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:24959610..24961654-chr12:24967893..24970356,2	K562	blood:
2	chr12:24962988..24964519-chr12:24967652..24970354,2	K562	blood:
3	chr12:24962988..24964519-chr12:24967652..24970354,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	BCAT1	hsa-miR-155-5p	chr12:24968368-24968362
2	BCAT1	hsa-let-7b-5p	chr12:24964517-24964510
3	BCAT1	hsa-let-7a-5p	chr12:24964517-24964510
4	BCAT1	hsa-let-7b-5p	chr12:24964511-24964532
5	BCAT1	hsa-let-7a-5p	chr12:24964511-24964532
6	BCAT1	hsa-miR-32-5p	chr12:24965155-24965174

Extended variants
information (count: 249 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:249 , 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	rs1043881	chr12:24964383-24964384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569747822	chr12:24964450-24964451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181061498	chr12:24964492-24964493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1043851	chr12:24964523-24964524	Weak transcription Strong transcription Enhancers	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113975079	chr12:24964537-24964538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144339462	chr12:24964542-24964543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11486	chr12:24964567-24964568	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs79713843	chr12:24964596-24964597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11047650	chr12:24964621-24964622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150642991	chr12:24964631-24964632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575942667	chr12:24964698-24964699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17371571	chr12:24964753-24964754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564942159	chr12:24964781-24964782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571392658	chr12:24964801-24964802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577048860	chr12:24964823-24964824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537138507	chr12:24964836-24964837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114227445	chr12:24964842-24964843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544801763	chr12:24964843-24964844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79282831	chr12:24964861-24964862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548424682	chr12:24964887-24964888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373375247	chr12:24964912-24964913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563439556	chr12:24964937-24964938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35186964	chr12:24964947-24964948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563256845	chr12:24964953-24964954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530483177	chr12:24964957-24964958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570588709	chr12:24964961-24964962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534836829	chr12:24965004-24965005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546867523	chr12:24965019-24965020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35804569	chr12:24965043-24965044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186347875	chr12:24965045-24965046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535671279	chr12:24965088-24965089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557601277	chr12:24965094-24965095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61429607	chr12:24965109-24965110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149830240	chr12:24965122-24965123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199939066	chr12:24965253-24965254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397824972	chr12:24965258-24965259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397802152	chr12:24965259-24965260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558616078	chr12:24965265-24965266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528769253	chr12:24965282-24965283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577011508	chr12:24965288-24965289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541162372	chr12:24965339-24965340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559193886	chr12:24965369-24965370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576568167	chr12:24965421-24965422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189667602	chr12:24965459-24965460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541680740	chr12:24965484-24965485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563583786	chr12:24965494-24965495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181309005	chr12:24965577-24965578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145793742	chr12:24965584-24965585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115104494	chr12:24965600-24965601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185963721	chr12:24965609-24965610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24956600-24969600	Weak transcription	Pancreas	Pancrea
2	chr12:24960400-24975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:24961000-24965800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:24961800-24969600	Weak transcription	NHLF	lung
5	chr12:24962400-24967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:24962600-24966200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:24963000-24967000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:24963200-24964400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:24963200-24967600	Weak transcription	Dnd41	blood
10	chr12:24963400-24965600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:24963600-24965200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:24963600-24965400	Weak transcription	HSMM	muscle
13	chr12:24963800-24965600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:24963800-24966400	Weak transcription	HUVEC	blood vessel
15	chr12:24963800-24966800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:24963800-24970000	Weak transcription	HSMMtube	muscle
17	chr12:24964000-24964600	Enhancers	Brain Germinal Matrix	brain
18	chr12:24964000-24965600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:24964000-24965800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:24964000-24965800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:24964000-24966200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:24964000-24968400	Weak transcription	NH-A	brain
23	chr12:24964000-25013400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:24964200-24967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:24964400-24973600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:24964600-24968200	Weak transcription	Brain Germinal Matrix	brain
27	chr12:24965000-24967600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:24965200-24969800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:24965200-24976800	Weak transcription	Lung	lung
30	chr12:24965200-24989800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:24965400-24968400	Strong transcription	HSMM	muscle
32	chr12:24965600-24965800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:24965600-24986800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:24965600-24989400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:24965600-25004800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:24965800-24967000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:24965800-24971000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:24965800-24974200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:24965800-24989800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:24966000-24967600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:24966000-24968000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:24966000-24968000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:24966000-24968000	Weak transcription	K562	blood
44	chr12:24966200-24966400	Enhancers	GM12878-XiMat	blood
45	chr12:24966200-24966800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:24966200-24967800	Weak transcription	Osteobl	bone
47	chr12:24966200-24973600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:24966200-24974800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:24966200-24987800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:24966200-24989600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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