Variant report

Variant	nsv469468
Chromosome Location	chr12:74072269-74138600
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	ATF1	chr12:74128867-74129001	K562	blood:	n/a	n/a
2	ATF1	chr12:74119709-74119780	K562	blood:	n/a	n/a
3	CEBPB	chr12:74130762-74131024	IMR90	lung:	n/a	chr12:74130863-74130874
4	CTCF	chr12:74096060-74096210	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr12:74133020-74133170	GM12873	blood:	n/a	n/a
6	CTCF	chr12:74120160-74120310	GM06990	blood:	n/a	n/a
7	CTCF	chr12:74106132-74106176	GM13976	blood:	n/a	n/a
8	CTCF	chr12:74102473-74102544	GM10248	blood:	n/a	n/a
9	CTCF	chr12:74085471-74085524	GM10266	blood:	n/a	n/a
10	CTCF	chr12:74114848-74114925	GM20000	blood:	n/a	n/a
11	CTCF	chr12:74129185-74129225	GM10248	blood:	n/a	n/a
12	CTCF	chr12:74096120-74096270	MCF-7	breast:	n/a	n/a
13	E2F4	chr12:74105854-74105959	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr12:74118943-74118998	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr12:74106470-74106641	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr12:74087066-74087266	MCF10A-Er-Src	breast:	n/a	chr12:74087164-74087172 chr12:74087164-74087171 chr12:74087164-74087172 chr12:74087162-74087174
17	FOS	chr12:74125519-74125735	MCF10A-Er-Src	breast:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
18	FOS	chr12:74125408-74125734	MCF10A-Er-Src	breast:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
19	FOS	chr12:74125535-74125752	MCF10A-Er-Src	breast:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
20	FOS	chr12:74087035-74087336	MCF10A-Er-Src	breast:	n/a	chr12:74087164-74087172 chr12:74087164-74087171 chr12:74087164-74087172 chr12:74087162-74087174
21	FOS	chr12:74125492-74125725	MCF10A-Er-Src	breast:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
22	FOSL1	chr12:74125438-74125800	HCT-116	colon:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
23	FOSL2	chr12:74072157-74072623	MCF-7	breast:	n/a	n/a
24	GATA3	chr12:74072040-74072723	MCF-7	breast:	n/a	n/a
25	GATA3	chr12:74089295-74089490	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr12:74072150-74072692	MCF-7	breast:	n/a	n/a
27	JUN	chr12:74126490-74126579	HepG2	liver:	n/a	chr12:74126561-74126570 chr12:74126557-74126570
28	JUN	chr12:74072324-74072524	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr12:74125880-74126068	HepG2	liver:	n/a	chr12:74125936-74125947 chr12:74125939-74125946 chr12:74125937-74125946 chr12:74125938-74125946 chr12:74125938-74125947
30	JUND	chr12:74072176-74072602	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr12:74126517-74126622	HepG2	liver:	n/a	chr12:74126561-74126570
32	JUND	chr12:74083563-74083698	HepG2	liver:	n/a	n/a
33	JUND	chr12:74125363-74125774	HCT-116	colon:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
34	MAFF	chr12:74072994-74073231	HepG2	liver:	n/a	n/a
35	MAFF	chr12:74109727-74109962	HepG2	liver:	n/a	chr12:74109796-74109814
36	MAFK	chr12:74072975-74073233	HepG2	liver:	n/a	n/a
37	MAFK	chr12:74073047-74073194	Hela-S3	cervix:	n/a	n/a
38	MAFK	chr12:74109736-74109891	HepG2	liver:	n/a	chr12:74109797-74109812 chr12:74109802-74109813 chr12:74109801-74109812 chr12:74109800-74109814 chr12:74109802-74109813 chr12:74109801-74109812 chr12:74109797-74109813
39	MAFK	chr12:74117618-74117683	K562	blood:	n/a	chr12:74117645-74117665
40	MAFK	chr12:74072984-74073298	HepG2	liver:	n/a	n/a
41	MAFK	chr12:74109685-74109985	HepG2	liver:	n/a	chr12:74109797-74109812 chr12:74109802-74109813 chr12:74109801-74109812 chr12:74109800-74109814 chr12:74109802-74109813 chr12:74109801-74109812 chr12:74109797-74109813
42	MAFK	chr12:74117620-74117722	HepG2	liver:	n/a	chr12:74117645-74117665
43	MAFK	chr12:74107855-74108053	HepG2	liver:	n/a	n/a
44	MAFK	chr12:74072995-74073283	IMR90	lung:	n/a	n/a
45	MAZ	chr12:74135619-74135678	HepG2	liver:	n/a	n/a
46	MYC	chr12:74125897-74126061	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr12:74086136-74086162	MCF-7	breast:	n/a	n/a
48	NR2F2	chr12:74072110-74072664	MCF-7	breast:	n/a	n/a
49	NR2F2	chr12:74072091-74072529	MCF-7	breast:	n/a	n/a
50	POLR2A	chr12:74118062-74118160	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74101710..74104445-chr12:74107767..74109671,2	MCF-7	breast:
2	chr11:832244..834955-chr12:74130847..74132651,2	MCF-7	breast:
3	chr12:74101710..74104445-chr12:74107767..74109671,2	MCF-7	breast:
4	chr12:74132246..74134294-chr12:74150416..74152196,2	K562	blood:

Variant related genes	Relation type
RNU6-1012P	TF binding region
ENSG00000255108	chromatin interactions
ENSG00000177697	chromatin interactions

Extended variants
information (count: 868 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12368391	chr12:74072269-74072270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574649865	chr12:74072271-74072272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532105611	chr12:74072380-74072381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117826334	chr12:74072390-74072391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543128301	chr12:74072393-74072394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570472127	chr12:74072501-74072502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531505589	chr12:74072533-74072534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184475814	chr12:74072555-74072556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1583785	chr12:74072562-74072563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1583786	chr12:74072569-74072570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149946329	chr12:74072570-74072571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552265513	chr12:74072599-74072600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs965838	chr12:74072613-74072614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539960590	chr12:74072651-74072652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556475924	chr12:74072694-74072695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576532261	chr12:74072744-74072745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535663326	chr12:74072763-74072764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147562666	chr12:74072768-74072769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559299163	chr12:74072778-74072779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199884122	chr12:74072792-74072793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117135088	chr12:74072881-74072882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188449460	chr12:74072886-74072887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61932596	chr12:74072904-74072905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576536972	chr12:74072918-74072919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73179439	chr12:74072956-74072957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535156388	chr12:74073044-74073045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184931380	chr12:74073080-74073081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551992949	chr12:74073107-74073108	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11179738	chr12:74073121-74073122	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2730538	chr12:74073130-74073131	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188965078	chr12:74073146-74073147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527552179	chr12:74073180-74073181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs6582184	chr12:74073181-74073182	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570814565	chr12:74073209-74073210	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539447926	chr12:74073237-74073238	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550290442	chr12:74073238-74073239	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs58401753	chr12:74073258-74073259	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74236549	chr12:74073297-74073298	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527507043	chr12:74073368-74073369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536074712	chr12:74073391-74073392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2119126	chr12:74073392-74073393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs144703241	chr12:74073563-74073564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181650482	chr12:74073577-74073578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142007459	chr12:74073586-74073587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553354047	chr12:74073606-74073607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576817673	chr12:74073610-74073611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186917982	chr12:74073662-74073663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552963365	chr12:74073679-74073680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs144190662	chr12:74073785-74073786	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs576030917	chr12:74073802-74073803	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74071200-74072600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:74071600-74072600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:74071800-74072600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:74072000-74072400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:74072200-74074800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:74074800-74075600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:74078200-74078800	ZNF genes & repeats	Pancreas	Pancrea
8	chr12:74107200-74107400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:74107400-74108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:74108400-74108800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:74108800-74110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:74109600-74110000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:74110000-74110400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:74110200-74110400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:74110400-74110600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:74110600-74119000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:74119000-74121400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:74119200-74121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:74119200-74121000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:74119600-74121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:74120600-74121000	Enhancers	Fetal Kidney	kidney
22	chr12:74120800-74121000	Enhancers	HMEC	breast
23	chr12:74120800-74121600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:74121400-74123000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:74123600-74123800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:74130600-74131000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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