Variant report

Variant	nsv557975
Chromosome Location	chr12:30000388-30022105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30007730..30010615-chr3:183415263..183417934,2	MCF-7	breast:
2	chr12:29995160..29997764-chr12:29998716..30001221,2	MCF-7	breast:
3	chr12:30012273..30014244-chr12:30025832..30028070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163872	chromatin interactions

Extended variants
information (count: 732 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7136365	chr12:30000388-30000389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540208752	chr12:30000412-30000413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs454324	chr12:30000435-30000436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138442661	chr12:30000445-30000446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550733931	chr12:30000462-30000463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115348264	chr12:30000470-30000471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186434515	chr12:30000533-30000534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552514913	chr12:30000546-30000547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190928730	chr12:30000552-30000553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182724430	chr12:30000588-30000589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76088133	chr12:30000607-30000608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11050490	chr12:30000633-30000634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs405311	chr12:30000639-30000640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141571707	chr12:30000659-30000660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372497926	chr12:30000664-30000665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73069887	chr12:30000667-30000668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191048730	chr12:30000712-30000713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78454653	chr12:30000726-30000727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547247547	chr12:30000751-30000752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371489268	chr12:30000754-30000755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183376404	chr12:30000783-30000784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572855039	chr12:30000798-30000799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555390214	chr12:30000802-30000803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149186018	chr12:30000834-30000835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115961921	chr12:30000864-30000865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562536989	chr12:30000903-30000904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532922683	chr12:30000937-30000938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546359181	chr12:30000943-30000944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs416697	chr12:30000944-30000945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528773113	chr12:30000945-30000946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369940963	chr12:30000952-30000953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201257553	chr12:30000999-30001000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187582384	chr12:30001045-30001046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191583248	chr12:30001067-30001068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533009090	chr12:30001080-30001081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182331336	chr12:30001141-30001142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143104429	chr12:30001165-30001166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557926598	chr12:30001175-30001176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112116333	chr12:30001176-30001177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530590214	chr12:30001193-30001194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200519829	chr12:30001197-30001198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552448699	chr12:30001220-30001221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570614580	chr12:30001229-30001230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148217810	chr12:30001235-30001236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533983697	chr12:30001264-30001265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187682905	chr12:30001287-30001288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571259725	chr12:30001327-30001328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73265828	chr12:30001330-30001331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544214213	chr12:30001364-30001365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534905767	chr12:30001385-30001386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29996200-30003000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:30001400-30001800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:30008400-30014400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:30011200-30011800	Enhancers	Fetal Brain Female	brain
5	chr12:30011200-30011800	Enhancers	NHEK	skin
6	chr12:30011200-30012000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:30011200-30012000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:30011400-30012000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:30011400-30012800	Enhancers	HMEC	breast
10	chr12:30014400-30016800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:30016000-30017600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr12:30016200-30016800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr12:30016200-30017200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr12:30016400-30017200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr12:30016600-30016800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr12:30016800-30018200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:30017000-30017200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr12:30017000-30017400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr12:30018200-30023600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:30020200-30027000	Weak transcription	Fetal Kidney	kidney

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