Variant report

Variant	nsv975617
Chromosome Location	chr12:39365818-39381391
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	chr12:39378140..39380661-chr12:39381373..39384205,2	MCF-7	breast:
2	chr12:39378140..39380661-chr12:39381373..39384205,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564285861	chr12:39375255-39375256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs61939616	chr12:39375282-39375283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs180818909	chr12:39375287-39375288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566408742	chr12:39375294-39375295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73276479	chr12:39375309-39375310	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7952765	chr12:39375325-39375326	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186485850	chr12:39375336-39375337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147678641	chr12:39375355-39375356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557741705	chr12:39375359-39375360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571118297	chr12:39375361-39375362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540156693	chr12:39375380-39375381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs142341441	chr12:39375387-39375388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs187485304	chr12:39376466-39376467	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572901967	chr12:39376485-39376486	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139999426	chr12:39376509-39376510	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17545893	chr12:39376596-39376597	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569824186	chr12:39376602-39376603	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7972590	chr12:39376615-39376616	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558548297	chr12:39376638-39376639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149843416	chr12:39376679-39376680	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7958118	chr12:39376685-39376686	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573667649	chr12:39376770-39376771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542983374	chr12:39376800-39376801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556217303	chr12:39376847-39376848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375699269	chr12:39376865-39376866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7967295	chr12:39376866-39376867	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144792626	chr12:39376911-39376912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565034893	chr12:39376923-39376924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527401074	chr12:39376928-39376929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541102404	chr12:39376939-39376940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560944506	chr12:39376954-39376955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116398530	chr12:39376960-39376961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374934793	chr12:39376964-39376965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572198927	chr12:39376965-39376966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542855705	chr12:39376977-39376978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs148558176	chr12:39377005-39377006	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145499857	chr12:39377014-39377015	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs147688239	chr12:39377057-39377058	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551567552	chr12:39377058-39377059	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571471923	chr12:39377082-39377083	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534046602	chr12:39377102-39377103	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140784907	chr12:39377120-39377121	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34059932	chr12:39377121-39377122	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs72298158	chr12:39377122-39377123	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs71075021	chr12:39377123-39377124	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201273199	chr12:39377124-39377125	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7968458	chr12:39377139-39377140	Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371303020	chr12:39377154-39377155	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7954830	chr12:39377167-39377168	Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7968566	chr12:39377200-39377201	Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39375200-39375400	ZNF genes & repeats	Pancreas	Pancrea
2	chr12:39376400-39376600	Enhancers	HepG2	liver
3	chr12:39376400-39377000	Active TSS	A549	lung
4	chr12:39376600-39377200	Active TSS	HepG2	liver
5	chr12:39376800-39377200	Active TSS	Osteobl	bone
6	chr12:39377000-39377200	Flanking Active TSS	A549	lung
7	chr12:39377200-39377800	Flanking Active TSS	HepG2	liver

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