Variant report

Variant	nsv557700
Chromosome Location	chr12:20346383-20379710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:19891960..19892749-chr12:20373098..20373845,3	MCF-7	breast:
2	chr12:20357490..20359310-chr12:20364032..20366032,2	MCF-7	breast:
3	chr12:20291329..20292956-chr12:20366236..20367919,2	K562	blood:
4	chr12:20357490..20359310-chr12:20364032..20366032,2	MCF-7	breast:
5	chr12:20068451..20069047-chr12:20373146..20373740,2	MCF-7	breast:
6	chr12:20357513..20360077-chr12:20436701..20439478,2	K562	blood:

Extended variants
information (count: 1083 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12582945	chr12:20346383-20346384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75015034	chr12:20346387-20346388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148347739	chr12:20346389-20346390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548813933	chr12:20346391-20346392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533370134	chr12:20346414-20346415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568370363	chr12:20346421-20346422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75912082	chr12:20346425-20346426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141492427	chr12:20346445-20346446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576903232	chr12:20346508-20346509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538479615	chr12:20346535-20346536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35041192	chr12:20346595-20346596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12302760	chr12:20346694-20346695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185039283	chr12:20346697-20346698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10770623	chr12:20346734-20346735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10770624	chr12:20346769-20346770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548604434	chr12:20346819-20346820	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368834096	chr12:20346888-20346889	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116147348	chr12:20346953-20346954	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs79145407	chr12:20346968-20346969	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181000118	chr12:20346974-20346975	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532262807	chr12:20346985-20346986	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139580871	chr12:20347044-20347045	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111312099	chr12:20347046-20347047	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531891604	chr12:20347047-20347048	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185028805	chr12:20347060-20347061	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs117992799	chr12:20347127-20347128	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533957828	chr12:20347166-20347167	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78508331	chr12:20347167-20347168	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570478175	chr12:20347179-20347180	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539549556	chr12:20347184-20347185	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11045114	chr12:20347189-20347190	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575391006	chr12:20347190-20347191	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372199553	chr12:20347220-20347221	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7307541	chr12:20347403-20347404	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs73073673	chr12:20347429-20347430	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144211597	chr12:20347438-20347439	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs80107982	chr12:20347439-20347440	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs190965178	chr12:20347473-20347474	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs56317263	chr12:20347513-20347514	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181797887	chr12:20347515-20347516	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556668961	chr12:20347527-20347528	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185887333	chr12:20347530-20347531	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531855490	chr12:20347571-20347572	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548740095	chr12:20347585-20347586	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs562278154	chr12:20347626-20347627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542221355	chr12:20347657-20347658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146052243	chr12:20347659-20347660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12304659	chr12:20347705-20347706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146104153	chr12:20347712-20347713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369305986	chr12:20347723-20347724	Weak transcription	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20328200-20354200	Weak transcription	Aorta	Aorta
2	chr12:20338200-20346800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:20342400-20347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:20343000-20347000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20346800-20347200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:20346800-20347400	Active TSS	NHDF-Ad	bronchial
7	chr12:20346800-20347600	Active TSS	Osteobl	bone
8	chr12:20347000-20347200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr12:20347000-20347200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:20347000-20347400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:20347000-20347600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:20347000-20347600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:20347000-20347600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:20347000-20347600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:20347000-20347600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:20347000-20347600	Enhancers	Colon Smooth Muscle	Colon
17	chr12:20350200-20351000	Weak transcription	Fetal Brain Male	brain
18	chr12:20351000-20351200	Enhancers	Fetal Brain Male	brain
19	chr12:20354200-20355000	Enhancers	Adipose Nuclei	Adipose
20	chr12:20354200-20355200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:20354200-20356000	Strong transcription	Aorta	Aorta
22	chr12:20354400-20354600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:20354600-20355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:20354600-20355800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:20355600-20356400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:20355800-20356200	Enhancers	Spleen	Spleen
27	chr12:20355800-20356400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:20355800-20356400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:20355800-20356600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:20356000-20364600	Weak transcription	Aorta	Aorta
31	chr12:20356200-20356600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:20356400-20365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:20356600-20357000	Enhancers	Fetal Intestine Small	intestine
34	chr12:20356600-20364600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:20357000-20357400	Weak transcription	Fetal Intestine Small	intestine
36	chr12:20357400-20357600	Enhancers	Fetal Intestine Small	intestine
37	chr12:20357600-20358200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:20357800-20358400	Enhancers	Fetal Heart	heart
39	chr12:20358200-20358400	Enhancers	Fetal Intestine Large	intestine
40	chr12:20358200-20358400	Enhancers	Fetal Intestine Small	intestine
41	chr12:20358200-20359600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:20358400-20359200	Weak transcription	Fetal Intestine Large	intestine
43	chr12:20358400-20364200	Weak transcription	Fetal Intestine Small	intestine
44	chr12:20358800-20359400	Enhancers	A549	lung
45	chr12:20358800-20359800	Enhancers	Hela-S3	cervix
46	chr12:20359000-20359600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:20359200-20359400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:20359200-20359400	Enhancers	Fetal Intestine Large	intestine
49	chr12:20359200-20359800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:20359400-20364000	Weak transcription	A549	lung

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