Variant report

Variant	esv2755047
Chromosome Location	chr8:115803396-115844268
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	chr8:115806592-115806911	HepG2	liver:	n/a	chr8:115806752-115806763
2	CEBPB	chr8:115815905-115816234	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr8:115819009-115819518	Hela-S3	cervix:	n/a	chr8:115819130-115819143
4	CTCF	chr8:115806820-115806970	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr8:115842854-115842923	Medullo	brain:	n/a	n/a
6	CTCF	chr8:115804420-115804570	A549	lung:	n/a	n/a
7	CTCF	chr8:115806920-115807070	WERI-Rb-1	eye:	n/a	n/a
8	E2F4	chr8:115830085-115830228	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr8:115838660-115838848	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr8:115815822-115816192	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr8:115806569-115806659	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr8:115815882-115816221	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:115815903-115816225	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr8:115819194-115819470	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr8:115818988-115819524	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr8:115820204-115820499	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr8:115815859-115816226	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:115818923-115819500	MCF10A-Er-Src	breast:	n/a	chr8:115818956-115818966 chr8:115818956-115818965 chr8:115818956-115818966
19	FOS	chr8:115815911-115816216	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr8:115840668-115841415	HUVEC	blood vessel:	n/a	chr8:115841223-115841234 chr8:115841226-115841233 chr8:115841224-115841234 chr8:115841225-115841234 chr8:115841225-115841233
21	GATA3	chr8:115838583-115838840	MCF-7	breast:	n/a	chr8:115838717-115838726 chr8:115838716-115838724 chr8:115838717-115838724 chr8:115838717-115838724 chr8:115838717-115838724
22	GATA3	chr8:115838472-115839026	MCF-7	breast:	n/a	chr8:115838717-115838726 chr8:115838716-115838724 chr8:115838717-115838724 chr8:115838717-115838724 chr8:115838717-115838724
23	GATA3	chr8:115818729-115819566	SK-N-SH	brain:	n/a	chr8:115818958-115818967
24	GATA3	chr8:115836684-115836775	SH-SY5Y	brain:	n/a	n/a
25	JUN	chr8:115837187-115837292	K562	blood:	n/a	chr8:115837230-115837239
26	JUN	chr8:115819194-115819382	HepG2	liver:	n/a	chr8:115819290-115819303
27	KAP1	chr8:115833573-115834134	HEK293	kidney:	n/a	n/a
28	KAP1	chr8:115833702-115834024	K562	blood:	n/a	n/a
29	MAFF	chr8:115841886-115842213	HepG2	liver:	n/a	chr8:115842034-115842048 chr8:115842035-115842053
30	MAFF	chr8:115818727-115818739	K562	blood:	n/a	n/a
31	MAFF	chr8:115841947-115842180	K562	blood:	n/a	chr8:115842034-115842048 chr8:115842035-115842053
32	MAFK	chr8:115841948-115842148	K562	blood:	n/a	chr8:115842036-115842051 chr8:115842034-115842048 chr8:115842037-115842047 chr8:115842038-115842047 chr8:115842041-115842052 chr8:115842033-115842049 chr8:115842031-115842051
33	MAFK	chr8:115841902-115842213	IMR90	lung:	n/a	chr8:115842036-115842051 chr8:115842034-115842048 chr8:115842037-115842047 chr8:115842038-115842047 chr8:115842041-115842052 chr8:115842033-115842049 chr8:115842031-115842051
34	MAFK	chr8:115835825-115836065	HepG2	liver:	n/a	n/a
35	MAFK	chr8:115821917-115821971	HepG2	liver:	n/a	n/a
36	MAFK	chr8:115841898-115842201	HepG2	liver:	n/a	chr8:115842036-115842051 chr8:115842034-115842048 chr8:115842037-115842047 chr8:115842038-115842047 chr8:115842041-115842052 chr8:115842033-115842049 chr8:115842031-115842051
37	MAFK	chr8:115835591-115836079	IMR90	lung:	n/a	n/a
38	MAFK	chr8:115841866-115842212	HepG2	liver:	n/a	chr8:115842036-115842051 chr8:115842034-115842048 chr8:115842037-115842047 chr8:115842038-115842047 chr8:115842041-115842052 chr8:115842033-115842049 chr8:115842031-115842051
39	MYC	chr8:115824486-115824504	K562	blood:	n/a	n/a
40	MYC	chr8:115815992-115816217	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr8:115827212-115827270	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr8:115833775-115833868	MCF-7	breast:	n/a	n/a
43	MYC	chr8:115815897-115816202	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr8:115803556-115803600	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr8:115835925-115836144	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr8:115833767-115833768	MCF-7	breast:	n/a	n/a
47	NFYA	chr8:115839555-115839719	GM12878	blood:	n/a	n/a
48	POLR2A	chr8:115833718-115833916	MCF-7	breast:	n/a	n/a
49	POLR2A	chr8:115819061-115819424	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr8:115816122-115816269	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:115802194..115804445-chr8:115804783..115806582,2	MCF-7	breast:
2	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPS1-3	chr8:115803882-115804158	NONHSAT128360

Variant related genes	Relation type
ENSG00000253756	TF binding region
ENSG00000253756	chromatin interactions

Extended variants
information (count: 459 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548192422	chr8:115803884-115803885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs370792951	chr8:115803896-115803897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs16886415	chr8:115803913-115803914	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528766417	chr8:115804013-115804014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs540475111	chr8:115804016-115804017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs537534672	chr8:115804055-115804056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs562061220	chr8:115804064-115804065	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs559319261	chr8:115804157-115804158	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs75192472	chr8:115804471-115804472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs535517996	chr8:115804513-115804514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs13278865	chr8:115804529-115804530	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145832482	chr8:115804538-115804539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541507540	chr8:115804786-115804787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563264299	chr8:115804810-115804811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113574828	chr8:115804838-115804839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182509323	chr8:115804847-115804848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566298408	chr8:115804849-115804850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7815936	chr8:115804914-115804915	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186833859	chr8:115804920-115804921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73702638	chr8:115804921-115804922	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73702639	chr8:115804988-115804989	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568293922	chr8:115805113-115805114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6985257	chr8:115805150-115805151	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568874716	chr8:115805206-115805207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575272302	chr8:115805322-115805323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529145665	chr8:115805354-115805355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539563352	chr8:115805363-115805364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557804456	chr8:115805368-115805369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548570250	chr8:115805379-115805380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572981272	chr8:115805447-115805448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534164047	chr8:115805523-115805524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374509337	chr8:115805525-115805526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555919542	chr8:115805610-115805611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35014464	chr8:115805674-115805675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28436677	chr8:115805700-115805701	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544843914	chr8:115805718-115805719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563282354	chr8:115805741-115805742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182661525	chr8:115805743-115805744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs16886428	chr8:115805749-115805750	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564196512	chr8:115805752-115805753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74517984	chr8:115805767-115805768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532036946	chr8:115805773-115805774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12676741	chr8:115805789-115805790	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117861396	chr8:115805797-115805798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529174615	chr8:115805798-115805799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143867412	chr8:115805845-115805846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148182611	chr8:115805859-115805860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539478787	chr8:115805860-115805861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369109516	chr8:115806031-115806032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141150856	chr8:115806060-115806061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
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
Glioblastoma multiforme	21080181	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
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115806800-115807200	Enhancers	Right Ventricle	heart
2	chr8:115809000-115809200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr8:115809000-115809200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:115809200-115810400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:115809400-115815200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:115815400-115817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:115815800-115816400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:115816200-115816600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:115833400-115833800	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr8:115833600-115834000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:115840800-115842000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:115841000-115841800	Enhancers	HUVEC	blood vessel

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