Variant report

Variant	nsv512260
Chromosome Location	chr12:29279200-29282549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29282290..29284993-chr12:29300811..29302573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064763	chromatin interactions
ENSG00000257258	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7486644	chr12:29279231-29279232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574340118	chr12:29279303-29279304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188202696	chr12:29279325-29279326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147513727	chr12:29279337-29279338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373012915	chr12:29279341-29279342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563140791	chr12:29279355-29279356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148427109	chr12:29279376-29279377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73071962	chr12:29279404-29279405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566250608	chr12:29279429-29279430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193154849	chr12:29279434-29279435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34423176	chr12:29279445-29279446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559964693	chr12:29279450-29279451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550830115	chr12:29279451-29279452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374731759	chr12:29279463-29279464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527306486	chr12:29279474-29279475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548529923	chr12:29279555-29279556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142536206	chr12:29279579-29279580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558643304	chr12:29279580-29279581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73071963	chr12:29279610-29279611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201600638	chr12:29279677-29279678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549654917	chr12:29279680-29279681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150498621	chr12:29279681-29279682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538431969	chr12:29279684-29279685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55892247	chr12:29279709-29279710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139632232	chr12:29279716-29279717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61511445	chr12:29279792-29279793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534190732	chr12:29279809-29279810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56822691	chr12:29279837-29279838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370285029	chr12:29279838-29279839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552997726	chr12:29279858-29279859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116487931	chr12:29279890-29279891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55705299	chr12:29279897-29279898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10843325	chr12:29279901-29279902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376566574	chr12:29279961-29279962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56140900	chr12:29279965-29279966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs377231331	chr12:29279997-29279998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184766098	chr12:29279998-29279999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188846723	chr12:29280043-29280044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370440082	chr12:29280055-29280056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75680504	chr12:29280061-29280062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12309725	chr12:29280072-29280073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183898966	chr12:29280076-29280077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143453601	chr12:29280112-29280113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73071968	chr12:29280137-29280138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12809929	chr12:29280146-29280147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566956875	chr12:29280181-29280182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534333334	chr12:29280210-29280211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549486238	chr12:29280247-29280248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567693799	chr12:29280255-29280256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146749951	chr12:29280259-29280260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	21248843	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29266400-29286400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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