Variant report

Variant	esv2757504
Chromosome Location	chr12:59191729-59234072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:59197676-59198115	IMR90	lung:	n/a	n/a
2	CEBPB	chr12:59229359-59229678	HepG2	liver:	n/a	chr12:59229468-59229479 chr12:59229504-59229513 chr12:59229503-59229514 chr12:59229502-59229513 chr12:59229502-59229515
3	CEBPB	chr12:59229366-59229651	IMR90	lung:	n/a	chr12:59229468-59229479 chr12:59229504-59229513 chr12:59229503-59229514 chr12:59229502-59229513 chr12:59229502-59229515
4	CEBPB	chr12:59197705-59198026	A549	lung:	n/a	n/a
5	CEBPB	chr12:59203036-59203289	IMR90	lung:	n/a	n/a
6	CEBPB	chr12:59229345-59229634	Hela-S3	cervix:	n/a	chr12:59229468-59229479 chr12:59229504-59229513 chr12:59229503-59229514 chr12:59229502-59229513 chr12:59229502-59229515
7	CEBPB	chr12:59197712-59198032	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:59206455-59206458	A549	lung:	n/a	n/a
9	CEBPB	chr12:59229276-59229641	MCF-7	breast:	n/a	chr12:59229468-59229479 chr12:59229504-59229513 chr12:59229503-59229514 chr12:59229502-59229513 chr12:59229502-59229515
10	CTCF	chr12:59227760-59227910	HEEpiC	esophagus:	n/a	chr12:59227824-59227840 chr12:59227825-59227846
11	CTCF	chr12:59198680-59198830	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr12:59198700-59198850	K562	blood:	n/a	n/a
13	CTCF	chr12:59213280-59213430	Caco-2	colon:	n/a	n/a
14	CTCF	chr12:59198640-59198790	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr12:59198720-59198870	GM12872	blood:	n/a	n/a
16	CTCF	chr12:59198680-59198830	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:59198660-59198810	SAEC	small airway:	n/a	n/a
18	CTCF	chr12:59198665-59198789	GM13976	blood:	n/a	n/a
19	CTCF	chr12:59198680-59198830	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr12:59213307-59213410	A549	lung:	n/a	n/a
21	CTCF	chr12:59213283-59213465	HepG2	liver:	n/a	n/a
22	CTCF	chr12:59198651-59198796	GM19240	blood:	n/a	n/a
23	CTCF	chr12:59198660-59198810	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr12:59198600-59198750	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr12:59227760-59227910	HMF	breast:	n/a	chr12:59227824-59227840 chr12:59227825-59227846
26	CTCF	chr12:59198546-59198824	HepG2	liver:	n/a	n/a
27	CTCF	chr12:59198648-59198798	GM12892	blood:	n/a	n/a
28	CTCF	chr12:59198660-59198810	GM12878	blood:	n/a	n/a
29	CTCF	chr12:59198628-59198824	A549	lung:	n/a	n/a
30	CTCF	chr12:59198720-59198870	AG09309	skin:	n/a	n/a
31	CTCF	chr12:59198642-59198849	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:59198640-59198790	GM12872	blood:	n/a	n/a
33	CTCF	chr12:59198672-59198786	GM10266	blood:	n/a	n/a
34	CTCF	chr12:59198664-59198785	GM12891	blood:	n/a	n/a
35	CTCF	chr12:59227780-59227930	HEEpiC	esophagus:	n/a	chr12:59227824-59227840 chr12:59227825-59227846
36	CTCF	chr12:59198640-59198790	HCT-116	colon:	n/a	n/a
37	CTCF	chr12:59206500-59206650	AG10803	skin:	n/a	n/a
38	CTCF	chr12:59198660-59198810	GM06990	blood:	n/a	n/a
39	CTCF	chr12:59198615-59198866	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr12:59198660-59198810	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr12:59198680-59198830	SAEC	small airway:	n/a	n/a
42	CTCF	chr12:59227762-59227910	GM12878	blood:	n/a	chr12:59227824-59227840 chr12:59227825-59227846
43	CTCF	chr12:59198636-59198791	GM19239	blood:	n/a	n/a
44	CTCF	chr12:59198700-59198850	Caco-2	colon:	n/a	n/a
45	CTCF	chr12:59198559-59198924	GM12878	blood:	n/a	n/a
46	CTCF	chr12:59213320-59213470	HepG2	liver:	n/a	n/a
47	CTCF	chr12:59198607-59198822	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:59198640-59198790	HFF	foreskin:	n/a	n/a
49	CTCF	chr12:59198640-59198790	GM12866	blood:	n/a	n/a
50	CTCF	chr12:59227740-59227890	MCF-7	breast:	n/a	chr12:59227824-59227840 chr12:59227825-59227846

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59227368..59228360-chr12:59480589..59481215,3	MCF-7	breast:
2	chr12:59227394..59228307-chr12:59543616..59544500,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-3	chr12:59199793-59199841	NONHSAT029031
2	lnc-SLC16A7-3	chr12:59206195-59206436	NONHSAT029031
3	lnc-SLC16A7-3	chr12:59199794-59199841	XLOC_009781
4	lnc-SLC16A7-3	chr12:59205805-59205815	XLOC_009781
5	lnc-SLC16A7-3	chr12:59206196-59206429	XLOC_009781
6	lnc-SLC16A7-3	chr12:59199727-59199764	XLOC_009781
7	lnc-SLC16A7-3	chr12:59206196-59206429	XLOC_009781
8	lnc-SLC16A7-3	chr12:59206196-59206436	XLOC_009781
9	lnc-SLC16A7-3	chr12:59206196-59206436	XLOC_009781
10	lnc-SLC16A7-3	chr12:59199726-59199764	NONHSAT029031
11	lnc-SLC16A7-3	chr12:59205804-59205815	NONHSAT029031

Variant related genes	Relation type
ENSG00000258231	TF binding region
ADCY6	miRNA target sites
TBC1D20	miRNA target sites

Extended variants
information (count: 716 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183632702	chr12:59192154-59192155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs566673796	chr12:59193237-59193238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559557640	chr12:59193245-59193246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531402632	chr12:59195614-59195615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189140247	chr12:59195651-59195652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151137588	chr12:59195697-59195698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74098381	chr12:59195758-59195759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567652701	chr12:59195814-59195815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547108872	chr12:59195828-59195829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140653265	chr12:59195830-59195831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77693629	chr12:59195883-59195884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536795836	chr12:59195926-59195927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1497233	chr12:59195969-59195970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567528603	chr12:59195978-59195979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58262728	chr12:59195996-59195997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537901498	chr12:59196050-59196051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181840197	chr12:59196117-59196118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11172730	chr12:59196141-59196142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs59212958	chr12:59196182-59196183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553907258	chr12:59196239-59196240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528741739	chr12:59196350-59196351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572344369	chr12:59196372-59196373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76396678	chr12:59196442-59196443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370055710	chr12:59196523-59196524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554766248	chr12:59196535-59196536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576309485	chr12:59196617-59196618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558831140	chr12:59196670-59196671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543692504	chr12:59196688-59196689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76522465	chr12:59196719-59196720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532133500	chr12:59196726-59196727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17121475	chr12:59196859-59196860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559100016	chr12:59196866-59196867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527936756	chr12:59196901-59196902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549267449	chr12:59196919-59196920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558396247	chr12:59196927-59196928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561568169	chr12:59196960-59196961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545271160	chr12:59196964-59196965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531778483	chr12:59196981-59196982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61221959	chr12:59196996-59196997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12580210	chr12:59197005-59197006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57473459	chr12:59197107-59197108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571693450	chr12:59197143-59197144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538780367	chr12:59197172-59197173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554103025	chr12:59197186-59197187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562316681	chr12:59197205-59197206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1148531	chr12:59197223-59197224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150060025	chr12:59197285-59197286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147722573	chr12:59197309-59197310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571568991	chr12:59197311-59197312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184935727	chr12:59197365-59197366	Weak 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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59195600-59195800	Enhancers	HSMM	muscle
2	chr12:59195800-59196200	Enhancers	Fetal Muscle Leg	muscle
3	chr12:59195800-59196400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:59196000-59196200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:59196000-59196600	Enhancers	HSMMtube	muscle
6	chr12:59196200-59202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:59196400-59197400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:59196600-59197600	Weak transcription	HSMMtube	muscle
9	chr12:59197400-59197600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:59197400-59197800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:59197400-59198400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:59197400-59198600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:59197400-59198800	Enhancers	NH-A	brain
14	chr12:59197600-59198000	Enhancers	NHEK	skin
15	chr12:59197600-59198200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:59197600-59198400	Enhancers	HSMM	muscle
17	chr12:59197600-59198400	Enhancers	HSMMtube	muscle
18	chr12:59197600-59198400	Enhancers	Osteobl	bone
19	chr12:59197600-59198800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:59197800-59198200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:59197800-59198400	Enhancers	NHLF	lung
22	chr12:59198200-59198400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:59198200-59198800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:59198400-59198600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:59198400-59205200	Weak transcription	HSMMtube	muscle
26	chr12:59198800-59203000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:59202000-59203000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:59202800-59203200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:59203000-59203200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:59203000-59203200	Enhancers	Osteobl	bone
31	chr12:59203000-59203600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:59203000-59203600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:59203000-59204400	Enhancers	Stomach Mucosa	stomach
34	chr12:59203000-59205000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:59203000-59206800	Enhancers	Liver	Liver
36	chr12:59203200-59203800	Enhancers	Gastric	stomach
37	chr12:59203200-59205200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:59203200-59207600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:59203400-59203600	Enhancers	Left Ventricle	heart
40	chr12:59203400-59203800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:59203600-59203800	Enhancers	Fetal Muscle Leg	muscle
42	chr12:59203600-59207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:59203800-59205000	Weak transcription	Gastric	stomach
44	chr12:59203800-59206200	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:59204400-59206000	Weak transcription	Stomach Mucosa	stomach
46	chr12:59205000-59205600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:59205200-59205400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:59205200-59205400	Enhancers	Gastric	stomach
49	chr12:59205200-59209200	Enhancers	HSMMtube	muscle
50	chr12:59205400-59205800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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