Variant report

Variant	esv1795634
Chromosome Location	chr12:21330988-21393018
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
2	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
3	chr12:21337800..21339752-chr12:21340612..21342590,2	K562	blood:
4	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
5	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
6	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
7	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
8	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
9	chr12:21337800..21339752-chr12:21340612..21342590,2	K562	blood:
10	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
11	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
12	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:

No data

Extended variants
information (count: 2697 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2697 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4149050	chr12:21330988-21330989	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570705460	chr12:21331003-21331004	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369889408	chr12:21331032-21331033	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386761044	chr12:21331057-21331058	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4149052	chr12:21331059-21331060	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377163991	chr12:21331087-21331088	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4149053	chr12:21331135-21331136	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4149054	chr12:21331179-21331180	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147874287	chr12:21331212-21331213	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113068377	chr12:21331237-21331238	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141555703	chr12:21331238-21331239	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554097751	chr12:21331272-21331273	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577460298	chr12:21331289-21331290	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150417061	chr12:21331306-21331307	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556151536	chr12:21331331-21331332	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576131938	chr12:21331332-21331333	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541915392	chr12:21331360-21331361	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561808252	chr12:21331386-21331387	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67496683	chr12:21331390-21331391	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397737356	chr12:21331395-21331396	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61760242	chr12:21331396-21331397	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200377912	chr12:21331398-21331399	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201475297	chr12:21331399-21331400	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528079154	chr12:21331407-21331408	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542174864	chr12:21331408-21331409	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562037961	chr12:21331425-21331426	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527424621	chr12:21331437-21331438	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541218539	chr12:21331441-21331442	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369060636	chr12:21331482-21331483	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374904388	chr12:21331486-21331487	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74541382	chr12:21331499-21331500	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549667377	chr12:21331512-21331513	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138374684	chr12:21331513-21331514	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141467543	chr12:21331546-21331547	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4149056	chr12:21331549-21331550	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
36	rs548326440	chr12:21331555-21331556	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371375183	chr12:21331563-21331564	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138965366	chr12:21331569-21331570	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142101690	chr12:21331570-21331571	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200331427	chr12:21331587-21331588	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4149057	chr12:21331599-21331600	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs376996580	chr12:21331605-21331606	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72559746	chr12:21331606-21331607	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148105486	chr12:21331619-21331620	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376755211	chr12:21331621-21331622	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2291075	chr12:21331625-21331626	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs540112224	chr12:21331626-21331627	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150623527	chr12:21331627-21331628	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556914358	chr12:21331629-21331630	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369764409	chr12:21331634-21331635	Strong 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21326800-21336800	Strong transcription	Liver	Liver
2	chr12:21335000-21336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:21335800-21336000	Enhancers	NH-A	brain
4	chr12:21336000-21337000	Weak transcription	NH-A	brain
5	chr12:21336000-21337800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:21336200-21337200	Enhancers	A549	lung
7	chr12:21336600-21337200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:21336600-21337200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:21336800-21339000	Weak transcription	Liver	Liver
10	chr12:21337000-21337400	Enhancers	NH-A	brain
11	chr12:21337200-21338400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:21338400-21339200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:21338600-21338800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:21339000-21340400	Strong transcription	Liver	Liver
15	chr12:21340400-21341200	Weak transcription	Liver	Liver
16	chr12:21341200-21342000	Strong transcription	Liver	Liver
17	chr12:21342000-21345800	Weak transcription	Liver	Liver
18	chr12:21345800-21361800	Strong transcription	Liver	Liver
19	chr12:21350800-21351000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:21350800-21351200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:21350800-21351400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:21350800-21351400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:21350800-21351400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:21351000-21360600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:21361800-21367800	Weak transcription	Liver	Liver
26	chr12:21367400-21368600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:21367400-21368600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr12:21367400-21368600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr12:21367400-21369000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:21367600-21368000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:21367600-21368800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:21367600-21368800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:21367600-21368800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:21367800-21370800	Strong transcription	Liver	Liver
35	chr12:21368600-21368800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:21368800-21369000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:21370800-21375400	Weak transcription	Liver	Liver
38	chr12:21371000-21371200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:21372400-21375200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:21372800-21373800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:21375400-21386800	Strong transcription	Liver	Liver
42	chr12:21385200-21385800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:21385400-21385600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:21385800-21397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:21386800-21389200	Weak transcription	Liver	Liver
46	chr12:21389200-21393000	Strong transcription	Liver	Liver
47	chr12:21393000-21395000	ZNF genes & repeats	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links