Variant report

Variant	nsv557751
Chromosome Location	chr12:21815898-21816831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:21816693-21816731	GM10248	blood:	n/a	n/a

Variant related genes	Relation type
LDHB	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12824788	chr12:21815898-21815899	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139292160	chr12:21815922-21815923	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545685086	chr12:21815941-21815942	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564897696	chr12:21815955-21815956	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12825320	chr12:21815979-21815980	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs372675065	chr12:21815988-21815989	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190784007	chr12:21815996-21815997	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs71452236	chr12:21816004-21816005	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12824994	chr12:21816005-21816006	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs566296610	chr12:21816007-21816008	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538567956	chr12:21816011-21816012	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552079857	chr12:21816013-21816014	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568794678	chr12:21816030-21816031	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12829701	chr12:21816031-21816032	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs549828045	chr12:21816063-21816064	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12830306	chr12:21816082-21816083	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs115880353	chr12:21816097-21816098	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535071815	chr12:21816122-21816123	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs555288270	chr12:21816126-21816127	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35029351	chr12:21816128-21816129	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566955704	chr12:21816129-21816130	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537071648	chr12:21816132-21816133	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs553183963	chr12:21816133-21816134	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs72229099	chr12:21816134-21816135	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs368668084	chr12:21816135-21816136	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181821058	chr12:21816142-21816143	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7302534	chr12:21816195-21816196	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs144113409	chr12:21816200-21816201	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150990103	chr12:21816202-21816203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7302639	chr12:21816205-21816206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs375993367	chr12:21816210-21816211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575999801	chr12:21816228-21816229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577736272	chr12:21816241-21816242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372196548	chr12:21816242-21816243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111992733	chr12:21816273-21816274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544788541	chr12:21816274-21816275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546007073	chr12:21816283-21816284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529762647	chr12:21816284-21816285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186056938	chr12:21816321-21816322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559794218	chr12:21816324-21816325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532207164	chr12:21816334-21816335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7303126	chr12:21816335-21816336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs568856577	chr12:21816339-21816340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531586393	chr12:21816344-21816345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7133704	chr12:21816349-21816350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs7302889	chr12:21816351-21816352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs7133707	chr12:21816357-21816358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs556885083	chr12:21816366-21816367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566958303	chr12:21816369-21816370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539280388	chr12:21816384-21816385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21810800-21816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21815400-21816000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:21815400-21816200	Active TSS	A549	lung
4	chr12:21815800-21816000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
5	chr12:21816200-21818800	Weak transcription	A549	lung
6	chr12:21816400-21817000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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