Variant report

Variant	nsv898893
Chromosome Location	chr12:21444883-21453355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:
2	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:
3	chr12:21449448..21450348-chr12:21590238..21590905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121350	chromatin interactions

Extended variants
information (count: 389 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4149002	chr12:21444883-21444884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564086175	chr12:21444888-21444889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561158457	chr12:21444907-21444908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376860480	chr12:21444934-21444935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543025130	chr12:21444954-21444955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559673748	chr12:21444959-21444960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528494232	chr12:21444990-21444991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6487215	chr12:21444991-21444992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571652018	chr12:21445044-21445045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544764563	chr12:21445079-21445080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368883991	chr12:21445082-21445083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531004465	chr12:21445125-21445126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202199268	chr12:21445129-21445130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550800241	chr12:21445137-21445138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370739142	chr12:21445154-21445155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377061804	chr12:21445155-21445156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187576708	chr12:21445156-21445157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201745566	chr12:21445162-21445163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368924931	chr12:21445186-21445187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373572811	chr12:21445201-21445202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200590450	chr12:21445208-21445209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376412810	chr12:21445210-21445211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149548406	chr12:21445260-21445261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11568575	chr12:21445286-21445287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538259920	chr12:21445310-21445311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200089219	chr12:21445315-21445316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558617182	chr12:21445324-21445325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575286070	chr12:21445353-21445354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7977606	chr12:21445381-21445382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7977483	chr12:21445383-21445384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529038981	chr12:21445450-21445451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192047843	chr12:21445493-21445494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548404784	chr12:21445507-21445508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540501046	chr12:21445562-21445563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71444114	chr12:21445574-21445575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71043260	chr12:21445577-21445578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371539527	chr12:21445593-21445594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112645720	chr12:21445674-21445675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560198107	chr12:21445675-21445676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568560567	chr12:21445679-21445680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182686672	chr12:21445696-21445697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116040707	chr12:21445757-21445758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79445965	chr12:21445774-21445775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12824944	chr12:21445776-21445777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7978322	chr12:21445807-21445808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141509571	chr12:21445811-21445812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567491472	chr12:21445818-21445819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78735020	chr12:21445819-21445820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547231232	chr12:21445823-21445824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373968829	chr12:21445881-21445882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	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
Obesity	20950786	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:21416200-21449600	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:21422600-21447200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:21426600-21460400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:21440600-21448200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:21441600-21446800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:21442200-21445000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:21446800-21447600	Strong transcription	Brain Substantia Nigra	brain
10	chr12:21447600-21460600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:21448200-21448400	ZNF genes & repeats	Brain Angular Gyrus	brain
12	chr12:21448400-21449600	Weak transcription	Brain Angular Gyrus	brain
13	chr12:21449200-21453200	Weak transcription	Liver	Liver
14	chr12:21449400-21449800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:21449600-21449800	Enhancers	A549	lung
16	chr12:21449600-21450200	Enhancers	Dnd41	blood
17	chr12:21449600-21450800	Enhancers	Brain Angular Gyrus	brain
18	chr12:21449600-21450800	Enhancers	Brain Hippocampus Middle	brain
19	chr12:21450000-21450600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:21450800-21451200	Weak transcription	Brain Angular Gyrus	brain
21	chr12:21450800-21460600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:21451200-21451400	Enhancers	Brain Angular Gyrus	brain
23	chr12:21451400-21460600	Weak transcription	Brain Angular Gyrus	brain
24	chr12:21453200-21454400	Enhancers	Liver	Liver

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