Variant report

Variant	nsv1044200
Chromosome Location	chr12:21357815-21410089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
2	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
3	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
4	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
5	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
6	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
7	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
8	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
9	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:

No data

Extended variants
information (count: 1901 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1901 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376246044	chr12:21357898-21357899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562113345	chr12:21357907-21357908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373819922	chr12:21357911-21357912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12427008	chr12:21357948-21357949	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs551165212	chr12:21357957-21357958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138743952	chr12:21358054-21358055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536974813	chr12:21358072-21358073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370324337	chr12:21358101-21358102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149375766	chr12:21358228-21358229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566460744	chr12:21358275-21358276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538683439	chr12:21358280-21358281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150918159	chr12:21358429-21358430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558675453	chr12:21358437-21358438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575419191	chr12:21358452-21358453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78338573	chr12:21358454-21358455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554769025	chr12:21358480-21358481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7132052	chr12:21358507-21358508	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540503979	chr12:21358523-21358524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560042069	chr12:21358588-21358589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572900190	chr12:21358605-21358606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533589802	chr12:21358633-21358634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201629365	chr12:21358645-21358646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545042823	chr12:21358653-21358654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565001792	chr12:21358657-21358658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71581990	chr12:21358672-21358673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398048292	chr12:21358674-21358675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531039909	chr12:21358683-21358684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3830216	chr12:21358695-21358696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72319748	chr12:21358696-21358697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4149099	chr12:21358697-21358698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61760246	chr12:21358727-21358728	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144871181	chr12:21358743-21358744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146186292	chr12:21358752-21358753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374048300	chr12:21358764-21358765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367936860	chr12:21358765-21358766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200265483	chr12:21358781-21358782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75563002	chr12:21358783-21358784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370408688	chr12:21358787-21358788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71581991	chr12:21358788-21358789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538596184	chr12:21358791-21358792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72559748	chr12:21358855-21358856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374859808	chr12:21358877-21358878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568944276	chr12:21358921-21358922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74064211	chr12:21358922-21358923	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs202110446	chr12:21358926-21358927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59502379	chr12:21358933-21358934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144733213	chr12:21358935-21358936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568173893	chr12:21358944-21358945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145491008	chr12:21358948-21358949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74064213	chr12:21358965-21358966	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21345800-21361800	Strong transcription	Liver	Liver
2	chr12:21351000-21360600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:21361800-21367800	Weak transcription	Liver	Liver
4	chr12:21367400-21368600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:21367400-21368600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:21367400-21368600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:21367400-21369000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:21367600-21368000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:21367600-21368800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:21367600-21368800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr12:21367600-21368800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:21367800-21370800	Strong transcription	Liver	Liver
13	chr12:21368600-21368800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:21368800-21369000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:21370800-21375400	Weak transcription	Liver	Liver
16	chr12:21371000-21371200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:21372400-21375200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:21372800-21373800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:21375400-21386800	Strong transcription	Liver	Liver
20	chr12:21385200-21385800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:21385400-21385600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:21385800-21397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:21386800-21389200	Weak transcription	Liver	Liver
24	chr12:21389200-21393000	Strong transcription	Liver	Liver
25	chr12:21393000-21395000	ZNF genes & repeats	Liver	Liver
26	chr12:21393200-21393800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:21393800-21394400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:21394400-21394600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:21394400-21394600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:21397800-21399000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:21398000-21399200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:21398200-21398600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:21399000-21401400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:21401400-21402400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:21401800-21402000	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:21402200-21402600	Enhancers	Fetal Heart	heart
37	chr12:21408400-21408600	Enhancers	Liver	Liver
38	chr12:21408600-21411800	Weak transcription	Liver	Liver

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