Variant report

Variant	esv1801229
Chromosome Location	chr12:72933432-72943972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 308 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11179240	chr12:72933432-72933433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189668471	chr12:72933467-72933468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75885065	chr12:72933523-72933524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563986160	chr12:72933610-72933611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138961066	chr12:72933612-72933613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374183838	chr12:72933631-72933632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182401125	chr12:72933655-72933656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557426381	chr12:72933757-72933758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532887650	chr12:72933797-72933798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546706015	chr12:72933840-72933841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552260209	chr12:72933859-72933860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555857021	chr12:72933876-72933877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142908952	chr12:72933877-72933878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545926393	chr12:72933918-72933919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146923474	chr12:72933981-72933982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530467054	chr12:72933982-72933983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1214899	chr12:72934005-72934006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370967803	chr12:72934108-72934109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186579019	chr12:72934210-72934211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10748198	chr12:72934229-72934230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562364509	chr12:72934257-72934258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536031939	chr12:72934260-72934261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531147099	chr12:72934303-72934304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554424052	chr12:72934412-72934413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7967421	chr12:72934413-72934414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111750460	chr12:72934420-72934421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551195814	chr12:72934438-72934439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558323670	chr12:72934488-72934489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576502292	chr12:72934535-72934536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1389497	chr12:72934574-72934575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369879460	chr12:72934625-72934626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555617827	chr12:72934635-72934636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148554588	chr12:72934643-72934644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541194763	chr12:72934645-72934646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559127983	chr12:72934709-72934710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532419036	chr12:72934756-72934757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532826168	chr12:72934772-72934773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539527051	chr12:72934816-72934817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544698209	chr12:72934889-72934890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79584475	chr12:72934891-72934892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563089494	chr12:72934900-72934901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191073500	chr12:72934918-72934919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548738900	chr12:72934973-72934974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568704197	chr12:72934996-72934997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546685365	chr12:72934997-72934998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566468271	chr12:72935077-72935078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73348405	chr12:72935082-72935083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372315509	chr12:72935147-72935148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547969664	chr12:72935208-72935209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535382963	chr12:72935235-72935236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72933000-72934400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:72933800-72935000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:72934200-72935000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:72934400-72935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:72935000-72941000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:72935400-72935600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:72935600-72939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:72937800-72938200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:72937800-72938600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:72938600-72939600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:72939200-72939400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:72939400-72940600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:72939600-72941600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:72940000-72940800	Enhancers	Adipose Nuclei	Adipose
15	chr12:72940200-72940800	Enhancers	Fetal Heart	heart
16	chr12:72940400-72941600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:72940400-72942000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:72940600-72940800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:72940600-72941600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:72940600-72941800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:72940600-72942000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:72940600-72942600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:72940800-72941400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:72940800-72941600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:72941000-72942000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:72941200-72941600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:72941400-72941600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:72941400-72941800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:72941400-72942000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:72941600-72942600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:72941600-72959800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:72942000-72948400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:72942600-72943000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:72942800-72943000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links