Variant report

Variant	nsv976743
Chromosome Location	chr12:47573169-47582750
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	ARID3A	chr12:47575761-47576124	K562	blood:	n/a	n/a
2	ATF1	chr12:47582612-47582928	K562	blood:	n/a	n/a
3	BHLHE40	chr12:47582544-47582859	K562	blood:	n/a	n/a
4	BHLHE40	chr12:47575756-47576520	K562	blood:	n/a	n/a
5	BRCA1	chr12:47582592-47582936	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:47582519-47582877	Hela-S3	cervix:	n/a	chr12:47582692-47582705
7	CEBPB	chr12:47582488-47582921	ECC-1	luminal epithelium:	n/a	chr12:47582692-47582705
8	CEBPB	chr12:47582503-47582932	MCF-7	breast:	n/a	chr12:47582692-47582705
9	CEBPB	chr12:47582506-47583349	IMR90	lung:	n/a	chr12:47582692-47582705
10	CEBPB	chr12:47582495-47583161	ECC-1	luminal epithelium:	n/a	chr12:47582692-47582705
11	CEBPB	chr12:47578609-47578986	MCF-7	breast:	n/a	n/a
12	CEBPB	chr12:47582453-47582867	A549	lung:	n/a	chr12:47582692-47582705
13	CEBPB	chr12:47582562-47583329	A549	lung:	n/a	chr12:47582692-47582705
14	CEBPB	chr12:47582534-47582872	K562	blood:	n/a	chr12:47582692-47582705
15	CEBPB	chr12:47582501-47583406	A549	lung:	n/a	chr12:47582692-47582705
16	CEBPB	chr12:47582472-47583021	MCF-7	breast:	n/a	chr12:47582692-47582705
17	CHD2	chr12:47582581-47582969	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr12:47582620-47582974	K562	blood:	n/a	n/a
19	CHD2	chr12:47582659-47582879	HepG2	liver:	n/a	n/a
20	CTCF	chr12:47578700-47578850	HMEC	breast:	n/a	n/a
21	CTCF	chr12:47579893-47579896	GM10266	blood:	n/a	n/a
22	CTCF	chr12:47582425-47582454	GM20000	blood:	n/a	n/a
23	CTCF	chr12:47575836-47575988	K562	blood:	n/a	n/a
24	CTCF	chr12:47579902-47579923	GM10266	blood:	n/a	n/a
25	CUX1	chr12:47575889-47576089	K562	blood:	n/a	n/a
26	E2F4	chr12:47573216-47573416	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr12:47575819-47576107	K562	blood:	n/a	n/a
28	EGR1	chr12:47575813-47576070	K562	blood:	n/a	n/a
29	EP300	chr12:47575843-47576135	K562	blood:	n/a	n/a
30	EP300	chr12:47582536-47582863	Hela-S3	cervix:	n/a	chr12:47582693-47582707 chr12:47582729-47582743 chr12:47582825-47582834
31	EP300	chr12:47582360-47583099	MCF-7	breast:	n/a	chr12:47582693-47582707 chr12:47582865-47582879 chr12:47582895-47582909 chr12:47582368-47582377 chr12:47582729-47582743 chr12:47582825-47582834
32	EP300	chr12:47580137-47580300	K562	blood:	n/a	n/a
33	ESR1	chr12:47582618-47582849	ECC-1	luminal epithelium:	n/a	chr12:47582747-47582764
34	ESR1	chr12:47582474-47582966	ECC-1	luminal epithelium:	n/a	chr12:47582747-47582764
35	ESR1	chr12:47582543-47582926	T-47D	breast:	n/a	chr12:47582747-47582764
36	ESR1	chr12:47582465-47582989	T-47D	breast:	n/a	chr12:47582747-47582764
37	ESR1	chr12:47582535-47582959	T-47D	breast:	n/a	chr12:47582747-47582764
38	ESR1	chr12:47582483-47582983	ECC-1	luminal epithelium:	n/a	chr12:47582747-47582764
39	ESR1	chr12:47582509-47582960	T-47D	breast:	n/a	chr12:47582747-47582764
40	ESR1	chr12:47582471-47582947	ECC-1	luminal epithelium:	n/a	chr12:47582747-47582764
41	ESR1	chr12:47582497-47582993	T-47D	breast:	n/a	chr12:47582747-47582764
42	ESR1	chr12:47582569-47582900	ECC-1	luminal epithelium:	n/a	chr12:47582747-47582764
43	FOS	chr12:47582608-47582853	MCF10A-Er-Src	breast:	n/a	chr12:47582837-47582848
44	FOS	chr12:47582728-47582855	MCF10A-Er-Src	breast:	n/a	chr12:47582837-47582848
45	FOS	chr12:47578604-47578892	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:47578593-47578887	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr12:47578599-47579018	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr12:47582633-47583053	HUVEC	blood vessel:	n/a	chr12:47582837-47582848
49	FOS	chr12:47578604-47579042	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr12:47582627-47582868	MCF10A-Er-Src	breast:	n/a	chr12:47582837-47582848

No.	Distal block	Cell Line	Cell type
1	chr12:47474476..47477081-chr12:47578294..47580063,2	MCF-7	breast:
2	chr12:47573280..47574917-chr12:47575519..47578031,2	MCF-7	breast:
3	chr12:47573280..47574917-chr12:47575519..47578031,2	MCF-7	breast:
4	chr12:47570735..47572239-chr12:47575249..47578128,2	K562	blood:
5	chr12:47569457..47573425-chr12:47575157..47580264,4	MCF-7	breast:
6	chr12:47482017..47484869-chr12:47577202..47579139,2	MCF-7	breast:
7	chr12:47572847..47576069-chr12:47588827..47592378,3	K562	blood:
8	chr12:47556322..47559512-chr12:47571534..47574931,3	MCF-7	breast:
9	chr12:47472804..47476649-chr12:47581153..47583704,4	MCF-7	breast:
10	chr12:47473659..47475774-chr12:47579276..47580797,2	MCF-7	breast:
11	chr12:47571772..47573716-chr12:47578864..47580803,2	MCF-7	breast:
12	chr12:47568747..47571601-chr12:47575649..47578426,3	MCF-7	breast:
13	chr12:47571772..47573716-chr12:47578864..47580803,2	MCF-7	breast:
14	chr12:47569457..47573425-chr12:47575157..47580264,4	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4698	chr12:47581643-47581665	MIMAT0019793

Variant related genes	Relation type
MIR4698	TF binding region
ENSG00000179715	chromatin interactions
ENSG00000139211	chromatin interactions

Extended variants
information (count: 356 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577182573	chr12:47573182-47573183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148974817	chr12:47573195-47573196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188921691	chr12:47573204-47573205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143788309	chr12:47573264-47573265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548840262	chr12:47573265-47573266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78313646	chr12:47573288-47573289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568206377	chr12:47573318-47573319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7295263	chr12:47573322-47573323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs151166488	chr12:47573339-47573340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7960991	chr12:47573383-47573384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs141185775	chr12:47573398-47573399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552035272	chr12:47573420-47573421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575274490	chr12:47573421-47573422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12822740	chr12:47573493-47573494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146957904	chr12:47573569-47573570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114152368	chr12:47573570-47573571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143890152	chr12:47573582-47573583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574583714	chr12:47573583-47573584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10706831	chr12:47573653-47573654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534001592	chr12:47573712-47573713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193270727	chr12:47573716-47573717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573075275	chr12:47573767-47573768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562811650	chr12:47573780-47573781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577145952	chr12:47573813-47573814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540102040	chr12:47573821-47573822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183529993	chr12:47573848-47573849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556887506	chr12:47573877-47573878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113465137	chr12:47573903-47573904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542544002	chr12:47573913-47573914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188173252	chr12:47573928-47573929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111758238	chr12:47573931-47573932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143434294	chr12:47573940-47573941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150162713	chr12:47573992-47573993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138664097	chr12:47573993-47573994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551798943	chr12:47574046-47574047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369659511	chr12:47574107-47574108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149296926	chr12:47574234-47574235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531460931	chr12:47574244-47574245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561500452	chr12:47574411-47574412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144570421	chr12:47574412-47574413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181057363	chr12:47574418-47574419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184133907	chr12:47574432-47574433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139315640	chr12:47574442-47574443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539840311	chr12:47574467-47574468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556551184	chr12:47574471-47574472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34833407	chr12:47574473-47574474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7299627	chr12:47574488-47574489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542507952	chr12:47574505-47574506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142823480	chr12:47574515-47574516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75619417	chr12:47574551-47574552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:47550600-47582400	Weak transcription	Aorta	Aorta
3	chr12:47551200-47583600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:47554800-47579600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:47555000-47576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:47557800-47581600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:47558600-47580200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:47558800-47582200	Weak transcription	NH-A	brain
9	chr12:47558800-47582400	Weak transcription	Lung	lung
10	chr12:47559000-47578000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:47559000-47582200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:47560200-47578800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:47561400-47578000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:47566600-47575600	Weak transcription	A549	lung
15	chr12:47566600-47582400	Weak transcription	HSMM	muscle
16	chr12:47568000-47575800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:47568200-47580800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:47568800-47575800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:47568800-47577800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:47570600-47578000	Weak transcription	NHEK	skin
21	chr12:47570600-47582800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:47570800-47580200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:47571000-47573400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:47571000-47578200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:47571200-47581600	Weak transcription	Primary T cells from cord blood	blood
26	chr12:47572000-47573200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:47572400-47577800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:47572400-47578000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:47572600-47573200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:47573000-47573200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:47573000-47575800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:47573200-47577800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:47573200-47578800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:47573200-47580400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:47574200-47582400	Weak transcription	Spleen	Spleen
36	chr12:47575600-47576000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:47575600-47576400	Enhancers	A549	lung
38	chr12:47575600-47576600	Enhancers	K562	blood
39	chr12:47575600-47576800	Enhancers	GM12878-XiMat	blood
40	chr12:47575800-47576000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:47575800-47576000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:47575800-47576000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:47575800-47576200	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:47576000-47576400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:47576000-47576400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:47576000-47577800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:47576000-47582400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:47576200-47582200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:47576400-47576600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:47576400-47576800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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