Variant report

Variant	nsv519505
Chromosome Location	chr12:20337185-20338941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10505864	chr12:20337185-20337186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4762748	chr12:20337201-20337202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182262722	chr12:20337221-20337222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576965363	chr12:20337224-20337225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564666843	chr12:20337275-20337276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11045112	chr12:20337286-20337287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370888197	chr12:20337356-20337357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188887990	chr12:20337363-20337364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34393582	chr12:20337369-20337370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561684871	chr12:20337409-20337410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10505863	chr12:20337431-20337432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74559218	chr12:20337435-20337436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73237590	chr12:20337443-20337444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17374759	chr12:20337464-20337465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531937415	chr12:20337469-20337470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193237391	chr12:20337492-20337493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374179362	chr12:20337574-20337575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12580900	chr12:20337578-20337579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10505862	chr12:20337594-20337595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs10505861	chr12:20337604-20337605	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534970470	chr12:20337659-20337660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17374842	chr12:20337687-20337688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183493131	chr12:20337689-20337690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539689138	chr12:20337801-20337802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188544753	chr12:20337812-20337813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191685117	chr12:20337840-20337841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7973703	chr12:20337847-20337848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555591527	chr12:20337878-20337879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537959478	chr12:20337959-20337960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571958604	chr12:20337963-20337964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541012828	chr12:20337964-20337965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564073152	chr12:20337985-20337986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577297661	chr12:20338029-20338030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183826447	chr12:20338057-20338058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7977038	chr12:20338076-20338077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529418732	chr12:20338097-20338098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549269180	chr12:20338137-20338138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559953182	chr12:20338162-20338163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142413780	chr12:20338179-20338180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551747929	chr12:20338192-20338193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571676522	chr12:20338256-20338257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537560177	chr12:20338292-20338293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568661807	chr12:20338318-20338319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11406133	chr12:20338337-20338338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10431248	chr12:20338371-20338372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569872536	chr12:20338372-20338373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188498488	chr12:20338386-20338387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535606877	chr12:20338388-20338389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555415261	chr12:20338410-20338411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191456278	chr12:20338416-20338417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
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
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
Myofibroblastic sarcoma	19369631	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
Acute lymphoblastic leukemia	22237106	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
Osteosarcoma	21215367	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20328200-20354200	Weak transcription	Aorta	Aorta
2	chr12:20334800-20337400	Enhancers	Fetal Intestine Large	intestine
3	chr12:20336200-20337200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:20336200-20337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:20336200-20337200	Enhancers	NHLF	lung
6	chr12:20336400-20337200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:20336400-20337400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:20336400-20338200	Enhancers	HUVEC	blood vessel
9	chr12:20336600-20341000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:20336800-20341000	Weak transcription	Fetal Heart	heart
11	chr12:20336800-20342200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:20336800-20342600	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:20337000-20337400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:20337400-20337600	Enhancers	Fetal Intestine Small	intestine
15	chr12:20337400-20338000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:20337400-20341000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:20337600-20338000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:20337600-20338000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:20337600-20338200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:20337600-20338200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:20337600-20338200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:20337600-20341400	Weak transcription	Fetal Intestine Small	intestine
23	chr12:20338000-20341800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:20338200-20339400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:20338200-20346800	Weak transcription	H9 Cell Line	embryonic stem cell

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