Variant report

Variant	esv3394719
Chromosome Location	chr8:78336446-78361924
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	chr8:78353179-78353452	HepG2	liver:	n/a	chr8:78353329-78353340
2	CEBPB	chr8:78353220-78353465	A549	lung:	n/a	chr8:78353329-78353340
3	CTCF	chr8:78349716-78349765	GM20000	blood:	n/a	n/a
4	FAM48A	chr8:78354098-78354174	GM12878	blood:	n/a	n/a
5	GATA2	chr8:78350371-78350764	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr8:78340882-78340990	SH-SY5Y	brain:	n/a	n/a
7	IRF1	chr8:78336799-78336817	K562	blood:	n/a	n/a
8	MAFF	chr8:78355941-78356136	HepG2	liver:	n/a	n/a
9	MAFF	chr8:78345379-78345566	HepG2	liver:	n/a	n/a
10	MAFK	chr8:78345376-78345555	HepG2	liver:	n/a	n/a
11	MAFK	chr8:78355896-78356192	HepG2	liver:	n/a	n/a
12	MAFK	chr8:78345470-78345538	HepG2	liver:	n/a	n/a
13	MAFK	chr8:78355944-78356136	HepG2	liver:	n/a	n/a
14	MAFK	chr8:78355941-78356203	IMR90	lung:	n/a	n/a
15	POLR2A	chr8:78358365-78358565	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:78357900-78358090	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:78351654-78351808	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:78344543-78344571	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:78352871-78353026	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr8:78348385-78348452	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr8:78337664-78337751	ProgFib	skin:	n/a	n/a
22	POLR2A	chr8:78352714-78352858	GM12878	blood:	n/a	n/a
23	RUNX3	chr8:78358536-78358903	GM12878	blood:	n/a	chr8:78358765-78358774 chr8:78358765-78358774
24	STAT3	chr8:78339713-78339723	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr8:78359925-78360125	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF7L2	chr8:78354524-78354905	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000254366	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546304939	chr8:78347454-78347455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569330634	chr8:78347577-78347578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536888546	chr8:78347624-78347625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189634966	chr8:78347702-78347703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs117990554	chr8:78347709-78347710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140857809	chr8:78347728-78347729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533875708	chr8:78347769-78347770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575679895	chr8:78347776-78347777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570440161	chr8:78347779-78347780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537718623	chr8:78347828-78347829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556449727	chr8:78347852-78347853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370984678	chr8:78347869-78347870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs180831921	chr8:78347870-78347871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185929849	chr8:78347917-78347918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554639656	chr8:78347936-78347937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572963104	chr8:78347944-78347945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs137864528	chr8:78347950-78347951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564908741	chr8:78348014-78348015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532567564	chr8:78348077-78348078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544565960	chr8:78348082-78348083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191982922	chr8:78348083-78348084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182282242	chr8:78348114-78348115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113007925	chr8:78348117-78348118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548755554	chr8:78348133-78348134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558850385	chr8:78348229-78348230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374595542	chr8:78348293-78348294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs527344881	chr8:78348314-78348315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs577250975	chr8:78348315-78348316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs1828921	chr8:78348323-78348324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs540864479	chr8:78348371-78348372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570328508	chr8:78348385-78348386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185929680	chr8:78348390-78348391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200929240	chr8:78348479-78348480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556174553	chr8:78348530-78348531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568389615	chr8:78348561-78348562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200236778	chr8:78348562-78348563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190437274	chr8:78348572-78348573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182637539	chr8:78348573-78348574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571932992	chr8:78348591-78348592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs187010868	chr8:78348595-78348596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559043791	chr8:78348606-78348607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs142673401	chr8:78348608-78348609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529737266	chr8:78348621-78348622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191259108	chr8:78348629-78348630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368329108	chr8:78348635-78348636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs10957855	chr8:78348639-78348640	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13261069	chr8:78348700-78348701	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527912669	chr8:78348737-78348738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552284891	chr8:78348749-78348750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12056535	chr8:78348753-78348754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78347400-78349200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:78349200-78350400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:78350400-78350800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:78357000-78357400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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