Variant report

Variant	nsv976584
Chromosome Location	chr12:21565709-21570696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21569338..21572113-chr12:21589171..21592854,4	K562	blood:
2	chr12:21561087..21564511-chr12:21564541..21567665,4	K562	blood:
3	chr12:21476298..21478074-chr12:21570042..21572071,2	K562	blood:
4	chr12:21569338..21572113-chr12:21589171..21592483,4	K562	blood:

Variant related genes	Relation type
ENSG00000121350	chromatin interactions
ENSG00000084453	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568053968	chr12:21565752-21565753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533728307	chr12:21565762-21565763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576357828	chr12:21565767-21565768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553489928	chr12:21565806-21565807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557073388	chr12:21565837-21565838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539173403	chr12:21565838-21565839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556306496	chr12:21565846-21565847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75663457	chr12:21565901-21565902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185689528	chr12:21565927-21565928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573717313	chr12:21565961-21565962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542661628	chr12:21566032-21566033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561690364	chr12:21566041-21566042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572020997	chr12:21566047-21566048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540574215	chr12:21566074-21566075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60848157	chr12:21566076-21566077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201351587	chr12:21566171-21566172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386375844	chr12:21566172-21566173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552622260	chr12:21566175-21566176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543221315	chr12:21566176-21566177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57653581	chr12:21566177-21566178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12227390	chr12:21566178-21566179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201079069	chr12:21566180-21566181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3983534	chr12:21566190-21566191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200184734	chr12:21566191-21566192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201137107	chr12:21566192-21566193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376070097	chr12:21566218-21566219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532604769	chr12:21566321-21566322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552426487	chr12:21566331-21566332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12319174	chr12:21566360-21566361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368147409	chr12:21566428-21566429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142862332	chr12:21566429-21566430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531981165	chr12:21566503-21566504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548809397	chr12:21566504-21566505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568723797	chr12:21566508-21566509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534516241	chr12:21566516-21566517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190887338	chr12:21566532-21566533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559060339	chr12:21566537-21566538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573099769	chr12:21566542-21566543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539499985	chr12:21566572-21566573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556033549	chr12:21566575-21566576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11046023	chr12:21566599-21566600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3213209	chr12:21566600-21566601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535235432	chr12:21566603-21566604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150436040	chr12:21566669-21566670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376427709	chr12:21566716-21566717	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182764924	chr12:21566799-21566800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs79882037	chr12:21566920-21566921	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75206835	chr12:21566921-21566922	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187479131	chr12:21566922-21566923	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565131627	chr12:21567005-21567006	Weak transcription Enhancers Active TSS Flanking Active TSS	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
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
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
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21564800-21572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21565200-21571000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:21566200-21566800	Enhancers	K562	blood
4	chr12:21566400-21566600	Enhancers	A549	lung
5	chr12:21566600-21566800	Flanking Active TSS	A549	lung
6	chr12:21566600-21567200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:21566800-21567200	Active TSS	A549	lung
8	chr12:21566800-21567200	Flanking Active TSS	K562	blood
9	chr12:21567000-21567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:21567000-21567600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:21567200-21568000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:21567200-21568200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:21567200-21568200	Weak transcription	K562	blood
14	chr12:21567200-21569400	Weak transcription	A549	lung
15	chr12:21567600-21569200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:21568000-21570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:21568200-21569000	Enhancers	K562	blood
18	chr12:21568200-21570200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:21568800-21571800	Enhancers	HUVEC	blood vessel
20	chr12:21569000-21570800	Weak transcription	K562	blood
21	chr12:21569200-21569800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:21569200-21569800	Enhancers	Osteobl	bone
23	chr12:21569200-21570200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:21569200-21570200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:21569200-21571000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:21569400-21569800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:21569400-21569800	Enhancers	Brain Hippocampus Middle	brain
28	chr12:21569400-21570000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:21569400-21570000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:21569400-21570000	Enhancers	Brain Anterior Caudate	brain
31	chr12:21569400-21570200	Enhancers	A549	lung
32	chr12:21569400-21570200	Enhancers	NH-A	brain
33	chr12:21569400-21570600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:21569600-21569800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:21569800-21570000	Enhancers	Brain Substantia Nigra	brain
36	chr12:21569800-21570200	Enhancers	NHDF-Ad	bronchial
37	chr12:21569800-21570600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:21569800-21570800	Weak transcription	Osteobl	bone
39	chr12:21569800-21571000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:21570000-21571000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:21570000-21572000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:21570200-21571200	Weak transcription	A549	lung

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