Variant report

Variant	nsv557736
Chromosome Location	chr12:21446936-21453466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000121350	chromatin interactions

Extended variants
information (count: 298 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11568574	chr12:21446936-21446937	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139230533	chr12:21446969-21446970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540800218	chr12:21447032-21447033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181402679	chr12:21447052-21447053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs722994	chr12:21447066-21447067	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372525084	chr12:21447079-21447080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552556254	chr12:21447144-21447145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143986177	chr12:21447152-21447153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185639190	chr12:21447193-21447194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548245744	chr12:21447203-21447204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568143747	chr12:21447215-21447216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188545480	chr12:21447236-21447237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4149001	chr12:21447245-21447246	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148666099	chr12:21447312-21447313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142200015	chr12:21447398-21447399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555991686	chr12:21447405-21447406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575972279	chr12:21447486-21447487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371492918	chr12:21447516-21447517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542805866	chr12:21447585-21447586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531879784	chr12:21447625-21447626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574798499	chr12:21447651-21447652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550279744	chr12:21447671-21447672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554253819	chr12:21447733-21447734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577321279	chr12:21447748-21447749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546426507	chr12:21447806-21447807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113171375	chr12:21447830-21447831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151227616	chr12:21447897-21447898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181018437	chr12:21447932-21447933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541821539	chr12:21447939-21447940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4149000	chr12:21447997-21447998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs547878617	chr12:21448070-21448071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78071439	chr12:21448084-21448085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527296293	chr12:21448088-21448089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185894698	chr12:21448185-21448186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570529240	chr12:21448188-21448189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532978908	chr12:21448196-21448197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201238856	chr12:21448269-21448270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143607974	chr12:21448270-21448271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539241763	chr12:21448272-21448273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200661739	chr12:21448274-21448275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202030354	chr12:21448275-21448276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4149011	chr12:21448285-21448286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549599971	chr12:21448357-21448358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34362845	chr12:21448358-21448359	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139795628	chr12:21448359-21448360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78303403	chr12:21448373-21448374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555257856	chr12:21448377-21448378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568325827	chr12:21448378-21448379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190898064	chr12:21448383-21448384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553972682	chr12:21448425-21448426	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:23 , 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	chr12:21446800-21447600	Strong transcription	Brain Substantia Nigra	brain
8	chr12:21447600-21460600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:21448200-21448400	ZNF genes & repeats	Brain Angular Gyrus	brain
10	chr12:21448400-21449600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:21449200-21453200	Weak transcription	Liver	Liver
12	chr12:21449400-21449800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:21449600-21449800	Enhancers	A549	lung
14	chr12:21449600-21450200	Enhancers	Dnd41	blood
15	chr12:21449600-21450800	Enhancers	Brain Angular Gyrus	brain
16	chr12:21449600-21450800	Enhancers	Brain Hippocampus Middle	brain
17	chr12:21450000-21450600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:21450800-21451200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:21450800-21460600	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:21451200-21451400	Enhancers	Brain Angular Gyrus	brain
21	chr12:21451400-21460600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:21453200-21454400	Enhancers	Liver	Liver
23	chr12:21453400-21454000	Enhancers	Monocytes-CD14+_RO01746	blood

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