Variant report

Variant	esv3431050
Chromosome Location	chr12:29394152-29394604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7968883	chr12:29394191-29394192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569880763	chr12:29394201-29394202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537276863	chr12:29394215-29394216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575118053	chr12:29394225-29394226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553726277	chr12:29394367-29394368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74974767	chr12:29394390-29394391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571754348	chr12:29394403-29394404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538717991	chr12:29394411-29394412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7954375	chr12:29394420-29394421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs370039711	chr12:29394542-29394543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536566873	chr12:29394570-29394571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4369447	chr12:29394585-29394586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs576308829	chr12:29394593-29394594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11614129	chr12:29394602-29394603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:62)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Intellectual disability	21811512	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:29381800-29394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:29381800-29394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:29388600-29394800	Weak transcription	NHEK	skin
5	chr12:29388800-29394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:29390200-29394800	Enhancers	HUVEC	blood vessel
7	chr12:29390400-29394400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:29391600-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:29391800-29394600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:29391800-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:29392200-29394600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:29392400-29394200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:29392400-29394200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:29392400-29394200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:29392400-29394400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:29392400-29394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:29392400-29394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:29392400-29394600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:29392400-29394600	Weak transcription	NH-A	brain
20	chr12:29392400-29395000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:29392400-29395400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:29392600-29394400	Weak transcription	Osteobl	bone
23	chr12:29392800-29396000	Enhancers	Placenta	Placenta
24	chr12:29393000-29394400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:29393200-29394400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:29393200-29394600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:29393200-29394600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:29393200-29395000	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:29393200-29396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:29393200-29397000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:29393400-29394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:29393400-29394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:29393400-29394600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:29393400-29394600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:29393400-29395400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:29393400-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:29393400-29396000	Enhancers	Duodenum Mucosa	Duodenum
38	chr12:29393400-29396600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:29393600-29394600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:29393600-29394600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:29393600-29394600	Weak transcription	Fetal Intestine Large	intestine
42	chr12:29393600-29394600	Weak transcription	Fetal Thymus	thymus
43	chr12:29393600-29394600	Weak transcription	Lung	lung
44	chr12:29393600-29394600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:29394000-29395800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr12:29394000-29395800	Enhancers	Stomach Smooth Muscle	stomach
47	chr12:29394000-29396200	Enhancers	Colonic Mucosa	Colon
48	chr12:29394000-29396200	Enhancers	NHDF-Ad	bronchial
49	chr12:29394200-29394400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:29394200-29394600	Enhancers	Adipose Nuclei	Adipose

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