Variant report

Variant	esv2756312
Chromosome Location	chr8:115791256-115892160
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	BHLHE40	chr8:115857814-115857817	GM12878	blood:	n/a	n/a
2	CEBPB	chr8:115815905-115816234	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr8:115801665-115802010	HepG2	liver:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
4	CEBPB	chr8:115855408-115855748	K562	blood:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
5	CEBPB	chr8:115855393-115855747	A549	lung:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
6	CEBPB	chr8:115852311-115852921	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr8:115855382-115855748	Hela-S3	cervix:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
8	CEBPB	chr8:115801680-115802019	IMR90	lung:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
9	CEBPB	chr8:115855388-115855731	ECC-1	luminal epithelium:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
10	CEBPB	chr8:115801538-115802040	Hela-S3	cervix:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
11	CEBPB	chr8:115872034-115872295	K562	blood:	n/a	chr8:115872169-115872180
12	CEBPB	chr8:115873894-115874260	A549	lung:	n/a	chr8:115874078-115874089
13	CEBPB	chr8:115855381-115855708	ECC-1	luminal epithelium:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
14	CEBPB	chr8:115872019-115872279	IMR90	lung:	n/a	chr8:115872169-115872180
15	CEBPB	chr8:115872012-115872301	HepG2	liver:	n/a	chr8:115872169-115872180
16	CEBPB	chr8:115857515-115857715	H1-hESC	embryonic stem cell:	n/a	chr8:115857532-115857545
17	CEBPB	chr8:115819009-115819518	Hela-S3	cervix:	n/a	chr8:115819130-115819143
18	CEBPB	chr8:115855408-115855708	MCF-7	breast:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
19	CEBPB	chr8:115859887-115860105	HepG2	liver:	n/a	chr8:115859954-115859967 chr8:115860058-115860070 chr8:115859954-115859967 chr8:115859954-115859965
20	CEBPB	chr8:115873911-115874231	K562	blood:	n/a	chr8:115874078-115874089
21	CEBPB	chr8:115873904-115874243	H1-hESC	embryonic stem cell:	n/a	chr8:115874078-115874089
22	CEBPB	chr8:115806592-115806911	HepG2	liver:	n/a	chr8:115806752-115806763
23	CEBPB	chr8:115801676-115801988	A549	lung:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
24	CEBPB	chr8:115873917-115874246	Hela-S3	cervix:	n/a	chr8:115874078-115874089
25	CEBPB	chr8:115873903-115874267	HepG2	liver:	n/a	chr8:115874078-115874089
26	CEBPB	chr8:115855383-115855744	H1-hESC	embryonic stem cell:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
27	CEBPB	chr8:115855379-115855749	IMR90	lung:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
28	CEBPB	chr8:115873899-115874272	IMR90	lung:	n/a	chr8:115874078-115874089
29	CEBPB	chr8:115855407-115855740	MCF-7	breast:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
30	CEBPB	chr8:115855380-115855751	HepG2	liver:	n/a	chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855561-115855570 chr8:115855559-115855572 chr8:115855559-115855572
31	CTCF	chr8:115857460-115857610	HPF	lung:	n/a	n/a
32	CTCF	chr8:115801480-115801630	HMF	breast:	n/a	n/a
33	CTCF	chr8:115858917-115859135	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:115801480-115801630	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr8:115801560-115801710	Caco-2	colon:	n/a	n/a
36	CTCF	chr8:115801463-115801708	IMR90	lung:	n/a	n/a
37	CTCF	chr8:115858920-115859070	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr8:115801520-115801670	GM12872	blood:	n/a	n/a
39	CTCF	chr8:115858900-115859050	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr8:115801540-115801690	HMEC	breast:	n/a	n/a
41	CTCF	chr8:115801540-115801690	AG04450	lung:	n/a	n/a
42	CTCF	chr8:115858940-115859090	AG04450	lung:	n/a	n/a
43	CTCF	chr8:115801480-115801630	HRE	kidney:	n/a	n/a
44	CTCF	chr8:115858960-115859110	AG04449	skin:	n/a	n/a
45	CTCF	chr8:115858960-115859110	AG09319	gingival:	n/a	n/a
46	CTCF	chr8:115858960-115859110	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr8:115801500-115801650	AG09319	gingival:	n/a	n/a
48	CTCF	chr8:115801580-115801730	RPTEC	kidney:	n/a	n/a
49	CTCF	chr8:115858940-115859090	GM12872	blood:	n/a	n/a
50	CTCF	chr8:115801500-115801650	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:115858454..115859582-chr8:116088622..116089592,9	MCF-7	breast:
2	chr8:115858587..115859263-chr8:116111343..116112027,3	MCF-7	breast:
3	chr8:115801565..115802207-chr8:116111087..116111614,2	MCF-7	breast:
4	chr8:115802194..115804445-chr8:115804783..115806582,2	MCF-7	breast:
5	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:
6	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:
7	chr8:115858302..115859090-chr8:116110965..116111686,2	MCF-7	breast:
8	chr8:115466661..115467320-chr8:115801108..115801704,2	MCF-7	breast:
9	chr8:115858972..115859777-chr8:116088522..116089323,3	MCF-7	breast:
10	chr8:115857407..115858047-chr8:116088791..116089518,2	MCF-7	breast:
11	chr8:115858790..115859787-chr8:116127493..116128052,2	MCF-7	breast:
12	chr8:115858350..115859560-chr8:116127592..116129068,6	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: 1714 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1714 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576139437	chr8:115796016-115796017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189164471	chr8:115796033-115796034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565150218	chr8:115796080-115796081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180684455	chr8:115796103-115796104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541465289	chr8:115796109-115796110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561282970	chr8:115796132-115796133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112226441	chr8:115796185-115796186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559778972	chr8:115796193-115796194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142154370	chr8:115796241-115796242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548662730	chr8:115796249-115796250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185115256	chr8:115796257-115796258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530322062	chr8:115796290-115796291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147836111	chr8:115796294-115796295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369048507	chr8:115796339-115796340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571159216	chr8:115796392-115796393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189204654	chr8:115796438-115796439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57319595	chr8:115796452-115796453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181958274	chr8:115796484-115796485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186674394	chr8:115796559-115796560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554619776	chr8:115796566-115796567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531328073	chr8:115796589-115796590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73346798	chr8:115796608-115796609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537283264	chr8:115796612-115796613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192012157	chr8:115796620-115796621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577114933	chr8:115796649-115796650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182944122	chr8:115796663-115796664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141428005	chr8:115796697-115796698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34936818	chr8:115796736-115796737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538770268	chr8:115796804-115796805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371503546	chr8:115796815-115796816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11992602	chr8:115796870-115796871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145249198	chr8:115796877-115796878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373314230	chr8:115796879-115796880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563769221	chr8:115796888-115796889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201113450	chr8:115796924-115796925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs66486844	chr8:115796925-115796926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79009430	chr8:115796942-115796943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201907342	chr8:115796944-115796945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116518168	chr8:115796953-115796954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186740090	chr8:115796971-115796972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371174359	chr8:115797002-115797003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7008574	chr8:115797042-115797043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs11985448	chr8:115797075-115797076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146998965	chr8:115797097-115797098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59346216	chr8:115797107-115797108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147641614	chr8:115797139-115797140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79764873	chr8:115797179-115797180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569759450	chr8:115797184-115797185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534845390	chr8:115797249-115797250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536744104	chr8:115797306-115797307	Enhancers	n/a	n/a	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115796000-115797200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:115796400-115797600	Enhancers	Dnd41	blood
3	chr8:115797600-115801200	Weak transcription	Dnd41	blood
4	chr8:115801200-115802200	Enhancers	Dnd41	blood
5	chr8:115801400-115801600	Enhancers	Hela-S3	cervix
6	chr8:115801600-115802000	Enhancers	Fetal Lung	lung
7	chr8:115801600-115802000	Flanking Active TSS	Hela-S3	cervix
8	chr8:115801600-115802000	Active TSS	Osteobl	bone
9	chr8:115806800-115807200	Enhancers	Right Ventricle	heart
10	chr8:115809000-115809200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr8:115809000-115809200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:115809200-115810400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:115809400-115815200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:115815400-115817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:115815800-115816400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:115816200-115816600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:115833400-115833800	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr8:115833600-115834000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:115840800-115842000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:115841000-115841800	Enhancers	HUVEC	blood vessel
21	chr8:115847200-115847600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:115848600-115849000	Enhancers	Aorta	Aorta
23	chr8:115848600-115849600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:115848800-115849000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:115848800-115849000	Enhancers	Pancreas	Pancrea
26	chr8:115849200-115849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:115849600-115852400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:115852200-115852800	Enhancers	Hela-S3	cervix
29	chr8:115852400-115853000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:115855000-115856000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:115855200-115856000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:115856000-115862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:115862000-115862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:115862600-115863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:115863600-115866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:115863800-115864400	Enhancers	HSMMtube	muscle
37	chr8:115863800-115864600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:115864400-115867800	Weak transcription	HSMMtube	muscle
39	chr8:115864600-115868000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:115866000-115867800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:115867800-115868600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:115867800-115868600	Enhancers	HSMM	muscle
43	chr8:115867800-115868600	Enhancers	HSMMtube	muscle
44	chr8:115867800-115868600	Enhancers	NH-A	brain
45	chr8:115867800-115868800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:115868000-115868400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:115868000-115868600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:115868000-115868600	Enhancers	NHDF-Ad	bronchial
49	chr8:115868200-115868600	Enhancers	Osteobl	bone
50	chr8:115868600-115874000	Weak transcription	Muscle Satellite Cultured Cells	--

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