Variant report

Variant	esv3510646
Chromosome Location	chr12:58720501-58731503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552684157	chr12:58720519-58720520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546530829	chr12:58720541-58720542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190787554	chr12:58720543-58720544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535503153	chr12:58720555-58720556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149391127	chr12:58720590-58720591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74096859	chr12:58720611-58720612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148546595	chr12:58720612-58720613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs118174367	chr12:58720613-58720614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183327509	chr12:58720658-58720659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541368857	chr12:58720689-58720690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187710330	chr12:58720696-58720697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377272579	chr12:58720708-58720709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11172544	chr12:58720729-58720730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192330180	chr12:58720760-58720761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564757500	chr12:58720806-58720807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74096860	chr12:58720826-58720827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530715899	chr12:58720861-58720862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183261804	chr12:58720878-58720879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56263902	chr12:58720891-58720892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188128945	chr12:58720904-58720905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528356097	chr12:58720913-58720914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147254795	chr12:58720931-58720932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193072540	chr12:58720933-58720934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140678862	chr12:58720934-58720935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574191409	chr12:58720948-58720949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370258820	chr12:58720999-58721000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562786929	chr12:58721000-58721001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527276157	chr12:58721003-58721004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75050308	chr12:58721019-58721020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76849283	chr12:58721021-58721022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200983663	chr12:58721032-58721033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574909887	chr12:58721037-58721038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535137396	chr12:58721041-58721042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145309981	chr12:58721046-58721047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147629535	chr12:58721067-58721068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4760203	chr12:58721092-58721093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184632691	chr12:58721166-58721167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577038018	chr12:58721175-58721176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114495849	chr12:58721207-58721208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189150504	chr12:58721214-58721215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574761400	chr12:58721241-58721242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541899621	chr12:58721274-58721275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576548296	chr12:58721282-58721283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4760204	chr12:58721283-58721284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575764670	chr12:58721292-58721293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61921204	chr12:58721294-58721295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528321248	chr12:58721332-58721333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546856576	chr12:58721439-58721440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35906588	chr12:58721499-58721500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528875829	chr12:58721532-58721533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58709200-58721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58720200-58724000	Weak transcription	Adipose Nuclei	Adipose
3	chr12:58720600-58721200	Enhancers	Fetal Intestine Large	intestine
4	chr12:58720600-58721400	Enhancers	Fetal Intestine Small	intestine
5	chr12:58724000-58724400	Active TSS	Adipose Nuclei	Adipose
6	chr12:58730400-58730600	Enhancers	A549	lung
7	chr12:58730600-58731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:58730600-58731200	Enhancers	Fetal Kidney	kidney
9	chr12:58730600-58731200	Enhancers	NHLF	lung
10	chr12:58730600-58731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:58730600-58731400	Flanking Active TSS	A549	lung
12	chr12:58730600-58731400	Enhancers	Hela-S3	cervix
13	chr12:58730600-58731400	Enhancers	HepG2	liver
14	chr12:58730600-58731400	Enhancers	HUVEC	blood vessel
15	chr12:58730600-58731400	Enhancers	NH-A	brain
16	chr12:58730600-58731400	Enhancers	NHDF-Ad	bronchial
17	chr12:58730600-58731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:58730600-58731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:58730600-58731800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:58730600-58731800	Enhancers	Fetal Heart	heart
21	chr12:58730600-58732000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:58730600-58732200	Enhancers	Fetal Intestine Large	intestine
23	chr12:58730800-58731200	Enhancers	Adipose Nuclei	Adipose
24	chr12:58730800-58731200	Enhancers	NHEK	skin
25	chr12:58730800-58731400	Enhancers	HSMMtube	muscle
26	chr12:58730800-58731400	Enhancers	Osteobl	bone
27	chr12:58731000-58731400	Enhancers	Fetal Lung	lung
28	chr12:58731000-58731400	Enhancers	HSMM	muscle
29	chr12:58731000-58732600	Enhancers	Fetal Intestine Small	intestine
30	chr12:58731200-58731600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:58731200-58735600	Weak transcription	Fetal Kidney	kidney
32	chr12:58731200-58735600	Weak transcription	NHLF	lung
33	chr12:58731200-58736200	Weak transcription	Adipose Nuclei	Adipose
34	chr12:58731400-58734600	Weak transcription	HUVEC	blood vessel
35	chr12:58731400-58735200	Weak transcription	Fetal Lung	lung
36	chr12:58731400-58735600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:58731400-58735600	Weak transcription	NH-A	brain
38	chr12:58731400-58735600	Weak transcription	NHDF-Ad	bronchial
39	chr12:58731400-58736400	Weak transcription	HSMMtube	muscle

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