Variant report

Variant	esv3520101
Chromosome Location	chr12:104291717-104294134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr12:104293324-104293486	HepG2	liver:	n/a	n/a
2	FOXA2	chr12:104293306-104293578	A549	lung:	n/a	n/a
3	GATA3	chr12:104291566-104291942	T-47D	breast:	n/a	n/a
4	GATA3	chr12:104294094-104294420	T-47D	breast:	n/a	n/a
5	JUN	chr12:104293126-104293216	H1-hESC	embryonic stem cell:	n/a	n/a
6	PBX3	chr12:104293359-104293454	GM12878	blood:	n/a	n/a
7	REST	chr12:104293354-104293447	PANC-1	pancreas:	n/a	n/a
8	SPI1	chr12:104293331-104293453	GM12878	blood:	n/a	n/a
9	USF1	chr12:104293352-104293452	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104294085..104296480-chr12:104308577..104310101,2	K562	blood:
2	chr12:104290265..104292950-chr12:104322949..104324909,2	K562	blood:
3	chr12:104290392..104292773-chr12:104312666..104315584,2	K562	blood:
4	chr12:104291534..104293159-chr12:104297953..104300433,2	K562	blood:
5	chr12:104290617..104292950-chr12:104323409..104325905,2	K562	blood:
6	chr12:104293129..104295287-chr12:104295560..104297769,2	K562	blood:
7	chr12:104289438..104292235-chr12:104295462..104297467,2	K562	blood:
8	chr12:104291172..104293021-chr12:104296690..104298441,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000166598	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000265072	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538843814	chr12:104291720-104291721	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs574022932	chr12:104291725-104291726	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs557046796	chr12:104291726-104291727	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs543085836	chr12:104291784-104291785	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs553127787	chr12:104291816-104291817	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs573182913	chr12:104291858-104291859	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368325263	chr12:104291938-104291939	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs148013969	chr12:104292018-104292019	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs141711736	chr12:104292036-104292037	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs118061988	chr12:104292071-104292072	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372918887	chr12:104292076-104292077	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs150150819	chr12:104292192-104292193	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs554534025	chr12:104292209-104292210	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370964790	chr12:104292216-104292217	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs557715596	chr12:104292265-104292266	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7963412	chr12:104292282-104292283	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2439620	chr12:104292325-104292326	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs528044336	chr12:104292336-104292337	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551669362	chr12:104292338-104292339	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541296581	chr12:104292339-104292340	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2439619	chr12:104292374-104292375	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs571576536	chr12:104292387-104292388	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs78865344	chr12:104292449-104292450	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs78214723	chr12:104292450-104292451	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs537269905	chr12:104292456-104292457	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs11111826	chr12:104292459-104292460	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs557162875	chr12:104292464-104292465	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs369605324	chr12:104292466-104292467	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200924895	chr12:104292470-104292471	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs367886081	chr12:104292471-104292472	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs61646458	chr12:104292491-104292492	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183993426	chr12:104292567-104292568	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs60547737	chr12:104292576-104292577	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11111827	chr12:104292577-104292578	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146054589	chr12:104292598-104292599	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs7298496	chr12:104292647-104292648	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558103016	chr12:104292669-104292670	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs578019844	chr12:104292711-104292712	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187041888	chr12:104292724-104292725	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs189794298	chr12:104292772-104292773	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs7298653	chr12:104292773-104292774	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542362276	chr12:104292842-104292843	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs11608361	chr12:104292848-104292849	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs182043640	chr12:104292872-104292873	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs140006747	chr12:104292890-104292891	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141978724	chr12:104292894-104292895	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs570892076	chr12:104292953-104292954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4964322	chr12:104292960-104292961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4964323	chr12:104293004-104293005	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577907384	chr12:104293005-104293006	Weak transcription	Chromatin interactive region	1 gene(s)	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104284600-104294200	Weak transcription	Thymus	Thymus
3	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:104291800-104292200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104292200-104294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:104293200-104293600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:104293200-104294800	Enhancers	Primary T cells from cord blood	blood
8	chr12:104293600-104294000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:104293800-104295400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:104294000-104295000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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