Variant report

Variant	esv3402764
Chromosome Location	chr12:44704785-44706733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528088124	chr12:44704870-44704871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12308857	chr12:44704873-44704874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564979381	chr12:44704880-44704881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532114991	chr12:44704886-44704887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139652765	chr12:44704948-44704949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371144505	chr12:44704949-44704950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552929774	chr12:44704954-44704955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367612892	chr12:44704962-44704963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116834673	chr12:44704972-44704973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144719669	chr12:44704974-44704975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181965231	chr12:44704980-44704981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147938286	chr12:44704982-44704983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114421006	chr12:44705043-44705044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79430401	chr12:44705074-44705075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553103200	chr12:44705077-44705078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187002866	chr12:44705124-44705125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11182464	chr12:44705189-44705190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11182465	chr12:44705220-44705221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1726884	chr12:44705239-44705240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542440751	chr12:44705268-44705269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17094421	chr12:44705303-44705304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79155651	chr12:44705305-44705306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147968148	chr12:44705349-44705350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540183255	chr12:44705366-44705367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1726883	chr12:44705373-44705374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532201912	chr12:44705383-44705384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559926860	chr12:44705500-44705501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550683170	chr12:44705502-44705503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200776386	chr12:44705511-44705512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577276224	chr12:44705512-44705513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11833606	chr12:44705520-44705521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113322225	chr12:44705522-44705523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201851700	chr12:44705541-44705542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145419953	chr12:44705542-44705543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531127005	chr12:44705546-44705547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60287681	chr12:44705550-44705551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11835733	chr12:44705552-44705553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559745060	chr12:44705562-44705563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200940666	chr12:44705571-44705572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57947233	chr12:44705572-44705573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549641522	chr12:44705590-44705591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11182466	chr12:44705604-44705605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59469360	chr12:44705606-44705607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371225316	chr12:44705614-44705615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59496905	chr12:44705621-44705622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398019335	chr12:44705622-44705623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182701807	chr12:44705624-44705625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1726882	chr12:44705634-44705635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57002957	chr12:44705640-44705641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56817355	chr12:44705642-44705643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Neurodevelopmental disorder	22521361	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44694600-44706000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
5	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
6	chr12:44700000-44705800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44703200-44707600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44703400-44711800	Weak transcription	Fetal Intestine Small	intestine
9	chr12:44704200-44705400	Enhancers	Fetal Brain Male	brain
10	chr12:44705800-44706800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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