Variant report

Variant	esv3367115
Chromosome Location	chr12:75684235-75687733
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	chr12:75684802-75685162	HepG2	liver:	n/a	chr12:75684985-75684996
2	CEBPB	chr12:75684893-75685084	HepG2	liver:	n/a	chr12:75684985-75684996
3	CEBPB	chr12:75684823-75685090	A549	lung:	n/a	chr12:75684985-75684996
4	FOXA1	chr12:75683996-75684379	HepG2	liver:	n/a	chr12:75684093-75684105
5	GATA1	chr12:75687653-75688681	PBDE	blood:	n/a	n/a
6	GATA3	chr12:75685564-75685658	SH-SY5Y	brain:	n/a	n/a
7	STAT3	chr12:75684384-75684410	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr12:75684948-75685002	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:75143585..75146196-chr12:75682282..75684719,2	MCF-7	breast:
2	chr12:75675181..75678021-chr12:75682376..75684656,2	MCF-7	breast:
3	chr12:75665105..75667577-chr12:75682796..75684340,2	MCF-7	breast:
4	chr12:75140866..75141740-chr12:75683619..75684268,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254451	TF binding region

Extended variants
information (count: 146 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578033589	chr12:75684237-75684238	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192620990	chr12:75684246-75684247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147196976	chr12:75684264-75684265	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6582284	chr12:75684326-75684327	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs143426208	chr12:75684361-75684362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542633012	chr12:75684377-75684378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559346790	chr12:75684417-75684418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34138210	chr12:75684428-75684429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528103851	chr12:75684429-75684430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376513817	chr12:75684434-75684435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560285857	chr12:75684465-75684466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565015817	chr12:75684496-75684497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185108218	chr12:75684503-75684504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190405219	chr12:75684541-75684542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147137457	chr12:75684554-75684555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541534491	chr12:75684558-75684559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536596081	chr12:75684559-75684560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181270218	chr12:75684563-75684564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566487696	chr12:75684575-75684576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368518754	chr12:75684588-75684589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538663185	chr12:75684714-75684715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202183644	chr12:75684715-75684716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202155768	chr12:75684716-75684717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67415251	chr12:75684717-75684718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558753898	chr12:75684724-75684725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200534312	chr12:75684725-75684726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201091623	chr12:75684726-75684727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372814202	chr12:75684763-75684764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536826549	chr12:75684798-75684799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557158326	chr12:75684813-75684814	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs573847915	chr12:75684920-75684921	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs542904811	chr12:75684924-75684925	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs10785183	chr12:75684935-75684936	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184690249	chr12:75685000-75685001	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs7980652	chr12:75685074-75685075	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140447424	chr12:75685080-75685081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs564813576	chr12:75685141-75685142	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530671807	chr12:75685191-75685192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139001261	chr12:75685207-75685208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574397513	chr12:75685259-75685260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556770226	chr12:75685261-75685262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544476330	chr12:75685281-75685282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561486854	chr12:75685284-75685285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530239564	chr12:75685286-75685287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71078721	chr12:75685303-75685304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559414144	chr12:75685318-75685319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144431384	chr12:75685320-75685321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5799217	chr12:75685332-75685333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546855627	chr12:75685371-75685372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566846039	chr12:75685373-75685374	Weak transcription	n/a	n/a	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
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75679600-75699200	Weak transcription	Aorta	Aorta
2	chr12:75681200-75711400	Weak transcription	Psoas Muscle	Psoas
3	chr12:75682200-75691800	Weak transcription	Ovary	ovary
4	chr12:75682200-75699200	Weak transcription	Right Ventricle	heart
5	chr12:75682600-75699200	Weak transcription	Left Ventricle	heart
6	chr12:75683400-75697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:75684600-75685000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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