Variant report

Variant	nsv518733
Chromosome Location	chr12:104842296-104844185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104844070-104844093	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104836858..104839359-chr12:104840173..104842812,3	K562	blood:
2	chr12:104841247..104843011-chr12:104850622..104852418,2	K562	blood:
3	chr12:104819109..104820894-chr12:104840449..104842365,2	MCF-7	breast:
4	chr12:104841297..104843611-chr12:104849491..104851332,2	MCF-7	breast:

Variant related genes	Relation type
CHST11	TF binding region
ENSG00000171310	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11112059	chr12:104842296-104842297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559954853	chr12:104842352-104842353	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12306097	chr12:104842357-104842358	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12306106	chr12:104842402-104842403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541897803	chr12:104842409-104842410	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541593628	chr12:104842424-104842425	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548254555	chr12:104842443-104842444	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186358082	chr12:104842475-104842476	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61434346	chr12:104842566-104842567	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189195798	chr12:104842585-104842586	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60393460	chr12:104842604-104842605	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539671580	chr12:104842622-104842623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547265202	chr12:104842642-104842643	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576623902	chr12:104842687-104842688	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542529246	chr12:104842688-104842689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561620246	chr12:104842723-104842724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572080259	chr12:104842727-104842728	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571977504	chr12:104842736-104842737	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541116798	chr12:104842751-104842752	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141642088	chr12:104842760-104842761	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79983260	chr12:104842806-104842807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147050130	chr12:104842811-104842812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549745924	chr12:104842836-104842837	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201879302	chr12:104842857-104842858	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567256004	chr12:104842861-104842862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35939000	chr12:104842862-104842863	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77046697	chr12:104842863-104842864	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76565314	chr12:104842874-104842875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs398039968	chr12:104842877-104842878	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75183359	chr12:104842878-104842879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180975185	chr12:104842972-104842973	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370717804	chr12:104842975-104842976	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529148954	chr12:104843020-104843021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13377804	chr12:104843033-104843034	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568075722	chr12:104843170-104843171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551175573	chr12:104843177-104843178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569380282	chr12:104843216-104843217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116098633	chr12:104843222-104843223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547484879	chr12:104843237-104843238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78842118	chr12:104843262-104843263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185000777	chr12:104843383-104843384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191338151	chr12:104843384-104843385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115669519	chr12:104843388-104843389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535732597	chr12:104843389-104843390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556135273	chr12:104843517-104843518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572065613	chr12:104843518-104843519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541055221	chr12:104843519-104843520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557871594	chr12:104843637-104843638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577632231	chr12:104843643-104843644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373362608	chr12:104843667-104843668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104840000-104849800	Weak transcription	Aorta	Aorta
2	chr12:104842200-104843000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links