Variant report

Variant	esv3400390
Chromosome Location	chr12:21839935-21842433
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	chr12:21835573..21837243-chr12:21840441..21841972,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541061387	chr12:21839938-21839939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79503725	chr12:21839959-21839960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577682762	chr12:21839994-21839995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184739735	chr12:21840011-21840012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563192702	chr12:21840153-21840154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529086597	chr12:21840167-21840168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548898433	chr12:21840187-21840188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541630141	chr12:21840212-21840213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372692345	chr12:21840222-21840223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376901587	chr12:21840258-21840259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74069365	chr12:21840274-21840275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551235982	chr12:21840301-21840302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570528932	chr12:21840306-21840307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77140742	chr12:21840309-21840310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142848022	chr12:21840364-21840365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4435050	chr12:21840395-21840396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189139571	chr12:21840427-21840428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117423174	chr12:21840436-21840437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144306264	chr12:21840440-21840441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74069366	chr12:21840445-21840446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375822032	chr12:21840468-21840469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545496297	chr12:21840470-21840471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111521438	chr12:21840471-21840472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572725379	chr12:21840519-21840520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535359459	chr12:21840520-21840521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558454551	chr12:21840557-21840558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148765727	chr12:21840625-21840626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs73079245	chr12:21840631-21840632	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557061969	chr12:21840634-21840635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573640605	chr12:21840666-21840667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs116782258	chr12:21840676-21840677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142418009	chr12:21840712-21840713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528237723	chr12:21840731-21840732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150883073	chr12:21840755-21840756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181605365	chr12:21840790-21840791	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs140151153	chr12:21840829-21840830	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549755246	chr12:21840892-21840893	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145673670	chr12:21840907-21840908	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532519156	chr12:21840926-21840927	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570166410	chr12:21840949-21840950	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529346714	chr12:21840966-21840967	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186906306	chr12:21840980-21840981	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114388416	chr12:21840987-21840988	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12316642	chr12:21841028-21841029	ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147550834	chr12:21841034-21841035	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571965122	chr12:21841072-21841073	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537080016	chr12:21841088-21841089	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199715331	chr12:21841113-21841114	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142009679	chr12:21841165-21841166	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563171207	chr12:21841192-21841193	ZNF genes & repeats Genic 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
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
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
Acute lymphoblastic leukemia	22237106	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21827600-21840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:21839200-21840800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:21840200-21840400	Enhancers	Spleen	Spleen
4	chr12:21840400-21840800	Weak transcription	Spleen	Spleen
5	chr12:21840600-21841200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:21840800-21841200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:21840800-21841200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:21840800-21841200	ZNF genes & repeats	Spleen	Spleen
9	chr12:21841200-21847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:21841200-21848200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links