Variant report

Variant	nsv525641
Chromosome Location	chr12:25088312-25090086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25066238..25070835-chr12:25088766..25091487,4	K562	blood:
2	chr12:25053604..25055969-chr12:25090019..25091552,2	K562	blood:
3	chr12:25073085..25077319-chr12:25086334..25092754,6	K562	blood:

Variant related genes	Relation type
ENSG00000268865	chromatin interactions
ENSG00000060982	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11047716	chr12:25088312-25088313	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557387606	chr12:25088361-25088362	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563951151	chr12:25088369-25088370	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573398436	chr12:25088391-25088392	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540465362	chr12:25088418-25088419	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149902488	chr12:25088438-25088439	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573911752	chr12:25088444-25088445	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375854560	chr12:25088472-25088473	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs10743527	chr12:25088511-25088512	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74501203	chr12:25088518-25088519	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533332068	chr12:25088550-25088551	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551915074	chr12:25088566-25088567	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560526434	chr12:25088594-25088595	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10771143	chr12:25088612-25088613	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549597130	chr12:25088652-25088653	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146442553	chr12:25088662-25088663	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141013345	chr12:25088670-25088671	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112043694	chr12:25088681-25088682	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143339082	chr12:25088684-25088685	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184547989	chr12:25088736-25088737	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188162959	chr12:25088828-25088829	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78395247	chr12:25088833-25088834	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572640294	chr12:25088854-25088855	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77269796	chr12:25088885-25088886	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572278161	chr12:25088937-25088938	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1693356	chr12:25088957-25088958	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146765995	chr12:25089070-25089071	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573726246	chr12:25089083-25089084	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544509475	chr12:25089103-25089104	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375086655	chr12:25089113-25089114	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181011782	chr12:25089141-25089142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528844471	chr12:25089177-25089178	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148897224	chr12:25089189-25089190	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75141313	chr12:25089199-25089200	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143261910	chr12:25089200-25089201	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560488264	chr12:25089230-25089231	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11613482	chr12:25089232-25089233	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549189826	chr12:25089257-25089258	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111468947	chr12:25089258-25089259	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72640139	chr12:25089259-25089260	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183586686	chr12:25089260-25089261	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56214342	chr12:25089351-25089352	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370590521	chr12:25089353-25089354	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538935724	chr12:25089354-25089355	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189971538	chr12:25089399-25089400	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113729354	chr12:25089431-25089432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566320912	chr12:25089470-25089471	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150429614	chr12:25089528-25089529	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555135349	chr12:25089593-25089594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76226167	chr12:25089645-25089646	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Lung adenocarcinoma	17982442	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25074800-25090600	Weak transcription	NHLF	lung
2	chr12:25075400-25090000	Weak transcription	NH-A	brain
3	chr12:25076200-25091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:25078000-25090000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:25082400-25094200	Weak transcription	HepG2	liver
6	chr12:25083000-25091200	Weak transcription	Lung	lung
7	chr12:25083400-25089800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:25083400-25096000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:25083600-25098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:25083600-25098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:25084200-25098600	Weak transcription	Fetal Thymus	thymus
12	chr12:25084800-25090800	Weak transcription	HSMMtube	muscle
13	chr12:25084800-25099800	Weak transcription	Thymus	Thymus
14	chr12:25085000-25089000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:25085200-25090000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:25085200-25090200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:25085400-25090200	Weak transcription	Osteobl	bone
18	chr12:25085400-25090800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:25085400-25090800	Weak transcription	HSMM	muscle
20	chr12:25085400-25093400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:25085600-25089400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:25085600-25090400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:25086200-25088800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr12:25086200-25089200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:25086400-25090000	Weak transcription	NHDF-Ad	bronchial
26	chr12:25086400-25090600	Weak transcription	HUVEC	blood vessel
27	chr12:25086600-25092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:25086600-25093800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:25086800-25090800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:25086800-25097200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:25086800-25100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:25087000-25089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:25087200-25090600	Weak transcription	NHEK	skin
34	chr12:25087200-25091400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:25087400-25089200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr12:25087400-25090200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:25087400-25093000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:25087600-25091600	Genic enhancers	K562	blood
39	chr12:25087800-25088600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:25088000-25088400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:25088000-25088400	Enhancers	Pancreas	Pancrea
42	chr12:25088000-25088600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:25088000-25089200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr12:25088000-25089200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:25088000-25089400	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:25088200-25088400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:25088200-25088600	Weak transcription	Dnd41	blood
48	chr12:25088400-25088600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:25088400-25090200	Weak transcription	Pancreas	Pancrea
50	chr12:25088400-25096200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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