Variant report

Variant	nsv899404
Chromosome Location	chr12:87233995-87276957
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	chr12:87271059-87271363	A549	lung:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
2	CEBPB	chr12:87271065-87271403	IMR90	lung:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
3	CEBPB	chr12:87271114-87271390	H1-hESC	embryonic stem cell:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
4	CEBPB	chr12:87251221-87251487	HepG2	liver:	n/a	chr12:87251355-87251366
5	CEBPB	chr12:87271055-87271397	HepG2	liver:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
6	CEBPB	chr12:87271066-87271372	K562	blood:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
7	CTCF	chr12:87276760-87276910	RPTEC	kidney:	n/a	n/a
8	CTCF	chr12:87273052-87273090	Lung_OC	lung:	n/a	n/a
9	CTCF	chr12:87268160-87268310	GM12865	blood:	n/a	n/a
10	CTCF	chr12:87257764-87257790	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr12:87270343-87270362	LNCaP	prostate:	n/a	n/a
12	E2F4	chr12:87244927-87245211	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr12:87234759-87234930	GM12878	blood:	n/a	chr12:87234879-87234890
14	EP300	chr12:87255343-87255396	K562	blood:	n/a	n/a
15	EP300	chr12:87247526-87247927	SK-N-SH_RA	brain:	n/a	n/a
16	FAM48A	chr12:87276700-87276878	GM12878	blood:	n/a	n/a
17	JUN	chr12:87241933-87242009	K562	blood:	n/a	n/a
18	MAFF	chr12:87235996-87236127	K562	blood:	n/a	n/a
19	MAFF	chr12:87235932-87236176	HepG2	liver:	n/a	n/a
20	MAFK	chr12:87235905-87236215	HepG2	liver:	n/a	n/a
21	MAFK	chr12:87258843-87259009	HepG2	liver:	n/a	n/a
22	MAFK	chr12:87243987-87244187	HepG2	liver:	n/a	n/a
23	MAFK	chr12:87274813-87274967	HepG2	liver:	n/a	chr12:87274875-87274886 chr12:87274866-87274886 chr12:87274876-87274887 chr12:87274875-87274886 chr12:87274874-87274888 chr12:87274876-87274887
24	MAFK	chr12:87235980-87236184	HepG2	liver:	n/a	n/a
25	MAFK	chr12:87257173-87257356	HepG2	liver:	n/a	chr12:87257233-87257248 chr12:87257234-87257245
26	MAFK	chr12:87257141-87257384	HepG2	liver:	n/a	chr12:87257233-87257248 chr12:87257234-87257245
27	MYC	chr12:87256034-87256051	MCF10A-Er-Src	breast:	n/a	n/a
28	NRF1	chr12:87261404-87261406	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:87261555-87261571	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:87250030-87250035	MCF-7	breast:	n/a	n/a
31	POLR2A	chr12:87259537-87259652	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr12:87265845-87265857	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr12:87244571-87244660	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:87274894-87275249	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:87256150-87256155	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr12:87242507-87242673	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr12:87256966-87257180	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:87276631-87276831	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr12:87268775-87268790	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr12:87271097-87271154	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:87270638-87270677	A549	lung:	n/a	n/a
42	POLR2A	chr12:87250042-87250115	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:87245978-87246156	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr12:87259680-87259986	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:87264229-87264232	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:87258262-87258310	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr12:87234641-87234774	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr12:87236776-87236976	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr12:87233949-87234058	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr12:87264592-87264618	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:87237467..87238342-chr7:40961627..40962369,2	MCF-7	breast:

Variant related genes	Relation type
MGAT4C	TF binding region
ENSG00000258185	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12812815	chr12:87233995-87233996	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559559923	chr12:87233998-87233999	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs563548431	chr12:87234069-87234070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530227513	chr12:87234099-87234100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139088026	chr12:87234119-87234120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144068592	chr12:87234127-87234128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80176323	chr12:87234141-87234142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552308256	chr12:87234171-87234172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570805854	chr12:87234180-87234181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528412788	chr12:87234188-87234189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12317790	chr12:87234207-87234208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568310672	chr12:87234244-87234245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535650965	chr12:87234265-87234266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578181579	chr12:87234292-87234293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191742728	chr12:87234293-87234294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184115582	chr12:87234309-87234310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557502832	chr12:87234314-87234315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572786489	chr12:87234318-87234319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541371572	chr12:87234341-87234342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74442645	chr12:87234423-87234424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377687113	chr12:87234496-87234497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77215834	chr12:87234500-87234501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371230294	chr12:87234510-87234511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149471332	chr12:87234514-87234515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528576710	chr12:87234521-87234522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146416094	chr12:87234550-87234551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563875560	chr12:87234590-87234591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10858501	chr12:87234655-87234656	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546970631	chr12:87234678-87234679	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs561974096	chr12:87234698-87234699	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs543810186	chr12:87234818-87234819	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs538618119	chr12:87234841-87234842	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs188466411	chr12:87234851-87234852	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs557246255	chr12:87234897-87234898	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs191466429	chr12:87234927-87234928	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs184435383	chr12:87234929-87234930	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs181525235	chr12:87235963-87235964	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs370073669	chr12:87236030-87236031	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs371766668	chr12:87236068-87236069	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs535788875	chr12:87236092-87236093	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs577737418	chr12:87236099-87236100	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs185873144	chr12:87236121-87236122	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs190198833	chr12:87236127-87236128	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs148866389	chr12:87236148-87236149	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs12314448	chr12:87236159-87236160	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566011880	chr12:87236214-87236215	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs150996739	chr12:87236788-87236789	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs11104124	chr12:87236802-87236803	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190614132	chr12:87236828-87236829	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs55789636	chr12:87236845-87236846	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87233000-87234000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:87233200-87234000	Enhancers	Fetal Brain Male	brain
3	chr12:87234000-87234600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:87263000-87263400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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