Variant report

Variant	esv3440532
Chromosome Location	chr12:59244734-59266539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:59265300..59268066-chr12:59282069..59283994,2	MCF-7	breast:
2	chr12:59259480..59262416-chr12:59311926..59314083,2	MCF-7	breast:
3	chr12:58818146..58820760-chr12:59243631..59245558,2	MCF-7	breast:

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LRIG3	hsa-miR-374b-5p	chr12:59265959-59265980
2	LRIG3	hsa-let-7f-5p	chr12:59266314-59266335
3	LRIG3	hsa-let-7f-5p	chr12:59266320-59266313
4	LRIG3	hsa-miR-18a-5p	chr12:59265962-59265987
5	LRIG3	hsa-miR-374b-5p	chr12:59265973-59265996
6	LRIG3	hsa-miR-19b-3p	chr12:59265971-59265964
7	LRIG3	hsa-miR-19b-3p	chr12:59265965-59265990

Variant related genes	Relation type
ENSG00000139263	chromatin interactions

Extended variants
information (count: 1006 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17121576	chr12:59244736-59244737	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11172764	chr12:59244786-59244787	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74099633	chr12:59244812-59244813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541274893	chr12:59244813-59244814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189254668	chr12:59244821-59244822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145655074	chr12:59244870-59244871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147722618	chr12:59244878-59244879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17121582	chr12:59244905-59244906	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530828365	chr12:59244917-59244918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552421870	chr12:59244970-59244971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192247940	chr12:59245005-59245006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528423772	chr12:59245007-59245008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184302401	chr12:59245025-59245026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568288222	chr12:59245029-59245030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17616823	chr12:59245084-59245085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557107910	chr12:59245117-59245118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11172765	chr12:59245119-59245120	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539065445	chr12:59245163-59245164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559165277	chr12:59245198-59245199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140887868	chr12:59245205-59245206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386763423	chr12:59245209-59245210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60416061	chr12:59245210-59245211	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368401382	chr12:59245218-59245219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574727496	chr12:59245256-59245257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543446267	chr12:59245295-59245296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142363585	chr12:59245297-59245298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563467162	chr12:59245298-59245299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151282103	chr12:59245385-59245386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545865955	chr12:59245405-59245406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564548313	chr12:59245410-59245411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528352245	chr12:59245429-59245430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140654242	chr12:59245450-59245451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546948263	chr12:59245453-59245454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538876923	chr12:59245456-59245457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11172766	chr12:59245465-59245466	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186720354	chr12:59245469-59245470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550648446	chr12:59245485-59245486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572343020	chr12:59245489-59245490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191480756	chr12:59245491-59245492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184020494	chr12:59245503-59245504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557466117	chr12:59245506-59245507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115520928	chr12:59245510-59245511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534992840	chr12:59245520-59245521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553268515	chr12:59245600-59245601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574666387	chr12:59245601-59245602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188901154	chr12:59245646-59245647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182177166	chr12:59245658-59245659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575643470	chr12:59245692-59245693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546303942	chr12:59245701-59245702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185465243	chr12:59245704-59245705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59235600-59252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:59242800-59244800	Weak transcription	HMEC	breast
3	chr12:59242800-59246800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:59243000-59257600	Weak transcription	NH-A	brain
5	chr12:59243200-59263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:59244400-59245200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:59244600-59245000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:59244600-59245200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:59244600-59245200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:59244600-59245200	Enhancers	NHDF-Ad	bronchial
11	chr12:59244600-59245200	Enhancers	NHEK	skin
12	chr12:59244800-59245200	Enhancers	HMEC	breast
13	chr12:59245000-59250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:59245200-59257400	Weak transcription	NHDF-Ad	bronchial
15	chr12:59245200-59260000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:59246800-59248200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:59248200-59248800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:59248400-59251000	Enhancers	Placenta	Placenta
19	chr12:59248800-59249400	Enhancers	Fetal Intestine Large	intestine
20	chr12:59248800-59250400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:59248800-59251600	Enhancers	Fetal Intestine Small	intestine
22	chr12:59249000-59249200	Enhancers	Stomach Mucosa	stomach
23	chr12:59249200-59249400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:59249200-59249400	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:59249200-59249400	Enhancers	Gastric	stomach
26	chr12:59249200-59250200	Weak transcription	Stomach Mucosa	stomach
27	chr12:59249400-59250200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:59249400-59250200	Weak transcription	Gastric	stomach
29	chr12:59249400-59253600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:59250200-59250400	Enhancers	Gastric	stomach
31	chr12:59250200-59252800	Enhancers	Stomach Mucosa	stomach
32	chr12:59250200-59255400	Enhancers	Fetal Intestine Large	intestine
33	chr12:59250400-59250600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:59250400-59257800	Weak transcription	Gastric	stomach
35	chr12:59250600-59251000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:59250800-59251000	Enhancers	Esophagus	oesophagus
37	chr12:59250800-59251400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:59250800-59251400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:59250800-59251600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:59250800-59252000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:59251000-59251200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:59251000-59251200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:59251000-59266400	Weak transcription	Esophagus	oesophagus
44	chr12:59251200-59251600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr12:59251200-59257800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:59251200-59261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:59251400-59251800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:59251400-59251800	Enhancers	HMEC	breast
49	chr12:59251400-59251800	Enhancers	NHEK	skin
50	chr12:59251400-59261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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