Variant report

Variant	esv1795884
Chromosome Location	chr12:103772579-103788340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 628 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1343985	chr12:103772579-103772580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34981929	chr12:103772621-103772622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541244672	chr12:103772630-103772631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564374655	chr12:103772682-103772683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530896623	chr12:103772706-103772707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533219751	chr12:103772710-103772711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566569598	chr12:103772728-103772729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1343986	chr12:103772733-103772734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569670973	chr12:103772754-103772755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2374061	chr12:103772777-103772778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150969959	chr12:103772782-103772783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559964490	chr12:103772796-103772797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377142853	chr12:103772813-103772814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190349597	chr12:103772815-103772816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147829966	chr12:103772875-103772876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532803703	chr12:103772881-103772882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551339815	chr12:103772900-103772901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568259088	chr12:103772911-103772912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377475362	chr12:103772912-103772913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553666979	chr12:103772931-103772932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12829170	chr12:103772937-103772938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147953211	chr12:103772974-103772975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533881393	chr12:103772977-103772978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371393691	chr12:103772994-103772995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10860991	chr12:103772995-103772996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541450457	chr12:103773022-103773023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181070930	chr12:103773038-103773039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572635808	chr12:103773079-103773080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541726752	chr12:103773107-103773108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564313365	chr12:103773133-103773134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538393712	chr12:103773218-103773219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200101794	chr12:103773228-103773229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141285696	chr12:103773238-103773239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533355147	chr12:103773240-103773241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543473229	chr12:103773241-103773242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563434692	chr12:103773258-103773259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185148386	chr12:103773289-103773290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199534019	chr12:103773357-103773358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574509960	chr12:103773382-103773383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550983153	chr12:103773434-103773435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73185877	chr12:103773440-103773441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527555610	chr12:103773445-103773446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547733717	chr12:103773450-103773451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570613645	chr12:103773474-103773475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539653741	chr12:103773476-103773477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560165718	chr12:103773485-103773486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556436522	chr12:103773522-103773523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201692208	chr12:103773636-103773637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34554902	chr12:103773668-103773669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569646984	chr12:103773689-103773690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103707200-103786400	Weak transcription	Primary B cells from cord blood	blood
2	chr12:103763600-103786400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:103767800-103776600	Weak transcription	Thymus	Thymus
4	chr12:103771000-103773600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:103772000-103772600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:103772600-103777400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:103776600-103776800	Enhancers	Thymus	Thymus
8	chr12:103778200-103778400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:103778400-103778800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:103784400-103784800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:103785800-103787400	ZNF genes & repeats	GM12878-XiMat	blood
12	chr12:103786200-103786600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:103786400-103786800	Enhancers	Dnd41	blood
14	chr12:103786400-103787000	Enhancers	Primary B cells from cord blood	blood
15	chr12:103786400-103787200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:103787000-103790400	Weak transcription	Primary B cells from cord blood	blood
17	chr12:103787200-103789800	Weak transcription	Primary B cells from peripheral blood	blood

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