Variant report

Variant	esv2761462
Chromosome Location	chr8:115662594-115838417
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	BCL11A	chr8:115767366-115767591	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr8:115724487-115724843	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr8:115711955-115711959	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr8:115669538-115669696	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:115819009-115819518	Hela-S3	cervix:	n/a	chr8:115819130-115819143
6	CEBPB	chr8:115711023-115711292	K562	blood:	n/a	chr8:115711094-115711105 chr8:115711127-115711138
7	CEBPB	chr8:115710155-115711305	Hela-S3	cervix:	n/a	chr8:115711094-115711105 chr8:115711127-115711138 chr8:115710617-115710630 chr8:115710695-115710708
8	CEBPB	chr8:115685267-115685383	H1-hESC	embryonic stem cell:	n/a	chr8:115685284-115685295
9	CEBPB	chr8:115771793-115772094	HepG2	liver:	n/a	chr8:115771949-115771960 chr8:115771948-115771961 chr8:115771948-115771961 chr8:115771948-115771959
10	CEBPB	chr8:115711027-115711229	HepG2	liver:	n/a	chr8:115711094-115711105 chr8:115711127-115711138
11	CEBPB	chr8:115724466-115725118	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:115685174-115685374	HepG2	liver:	n/a	chr8:115685284-115685295
13	CEBPB	chr8:115801538-115802040	Hela-S3	cervix:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
14	CEBPB	chr8:115806592-115806911	HepG2	liver:	n/a	chr8:115806752-115806763
15	CEBPB	chr8:115679258-115679378	K562	blood:	n/a	chr8:115679275-115679288 chr8:115679277-115679288
16	CEBPB	chr8:115801665-115802010	HepG2	liver:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
17	CEBPB	chr8:115801680-115802019	IMR90	lung:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
18	CEBPB	chr8:115815905-115816234	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr8:115676518-115676729	HepG2	liver:	n/a	chr8:115676646-115676657 chr8:115676646-115676659
20	CEBPB	chr8:115801676-115801988	A549	lung:	n/a	chr8:115801845-115801858 chr8:115801846-115801857
21	CEBPB	chr8:115711062-115711262	A549	lung:	n/a	chr8:115711094-115711105 chr8:115711127-115711138
22	CEBPB	chr8:115769435-115769648	HepG2	liver:	n/a	chr8:115769548-115769559
23	CTCF	chr8:115801560-115801710	Caco-2	colon:	n/a	n/a
24	CTCF	chr8:115801500-115801650	HCFaa	heart:	n/a	n/a
25	CTCF	chr8:115801700-115801850	HAc	cerebellar:	n/a	n/a
26	CTCF	chr8:115801440-115801590	HMF	breast:	n/a	n/a
27	CTCF	chr8:115801580-115801730	HVMF	connective:	n/a	n/a
28	CTCF	chr8:115743855-115743933	GM20000	blood:	n/a	n/a
29	CTCF	chr8:115801462-115801762	GM12878	blood:	n/a	n/a
30	CTCF	chr8:115801500-115801650	AG09319	gingival:	n/a	n/a
31	CTCF	chr8:115801520-115801670	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr8:115801456-115801727	Medullo	brain:	n/a	n/a
33	CTCF	chr8:115801480-115801630	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:115714110-115714192	GM10266	blood:	n/a	n/a
35	CTCF	chr8:115801500-115801650	AG04449	skin:	n/a	n/a
36	CTCF	chr8:115801540-115801690	GM12873	blood:	n/a	n/a
37	CTCF	chr8:115801600-115801750	HCM	heart:	n/a	n/a
38	CTCF	chr8:115801500-115801650	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr8:115801412-115801663	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:115801500-115801650	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr8:115694840-115694990	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr8:115796059-115796109	GM20000	blood:	n/a	n/a
43	CTCF	chr8:115801384-115801909	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr8:115801500-115801650	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr8:115801876-115801919	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr8:115801480-115801630	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr8:115801506-115801691	LNCaP	prostate:	n/a	n/a
48	CTCF	chr8:115801466-115801640	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr8:115801420-115801570	HFF	foreskin:	n/a	n/a
50	CTCF	chr8:115801660-115801810	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:115661718..115664007-chr8:115669126..115671791,3	MCF-7	breast:
2	chr8:115801565..115802207-chr8:116111087..116111614,2	MCF-7	breast:
3	chr8:115661718..115664007-chr8:115669126..115671791,3	MCF-7	breast:
4	chr8:115672072..115674902-chr8:115675428..115678154,2	MCF-7	breast:
5	chr8:115672072..115674902-chr8:115675428..115678154,2	MCF-7	breast:
6	chr8:115802194..115804445-chr8:115804783..115806582,2	MCF-7	breast:
7	chr8:115690493..115692779-chr8:115729828..115731998,2	K562	blood:
8	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:
9	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:
10	chr7:120719872..120722285-chr8:115706379..115707879,2	K562	blood:
11	chr8:115690493..115692779-chr8:115729828..115731998,2	K562	blood:
12	chr8:115659374..115661698-chr8:115661998..115664960,2	K562	blood:
13	chr8:115466661..115467320-chr8:115801108..115801704,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-67H2.1.1-5	chr8:115686107-115686229	NONHSAT128359
2	lnc-TRPS1-3	chr8:115803882-115804158	NONHSAT128360
3	lnc-RP11-67H2.1.1-5	chr8:115681785-115682907	NONHSAT128359

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

Extended variants
information (count: 1858 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1858 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9656798	chr8:115662594-115662595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572939611	chr8:115662615-115662616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550199610	chr8:115662616-115662617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561876838	chr8:115662642-115662643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573754801	chr8:115662721-115662722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544537774	chr8:115662748-115662749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190760209	chr8:115662751-115662752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543580733	chr8:115662752-115662753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373580621	chr8:115662791-115662792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183007810	chr8:115662863-115662864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187625629	chr8:115662883-115662884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139031989	chr8:115662937-115662938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57595717	chr8:115662941-115662942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146801024	chr8:115662946-115662947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545050683	chr8:115662949-115662950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377419685	chr8:115663014-115663015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549206282	chr8:115663044-115663045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567889493	chr8:115663092-115663093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538038438	chr8:115663124-115663125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550476871	chr8:115663125-115663126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193206764	chr8:115663161-115663162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545576645	chr8:115663228-115663229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539453151	chr8:115663273-115663274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368687416	chr8:115663318-115663319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557742626	chr8:115663342-115663343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566572723	chr8:115663344-115663345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533938126	chr8:115663352-115663353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565596035	chr8:115663406-115663407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80259146	chr8:115663485-115663486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528005261	chr8:115663681-115663682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573815372	chr8:115663690-115663691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73705353	chr8:115663730-115663731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184780709	chr8:115663801-115663802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140591218	chr8:115663851-115663852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545010784	chr8:115663858-115663859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560068948	chr8:115663859-115663860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187258620	chr8:115663900-115663901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72688196	chr8:115663941-115663942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192242712	chr8:115663942-115663943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113148977	chr8:115663947-115663948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139899253	chr8:115663966-115663967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373843632	chr8:115663969-115663970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183904788	chr8:115663971-115663972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561169318	chr8:115663992-115663993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532292654	chr8:115664127-115664128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188738922	chr8:115664203-115664204	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6984508	chr8:115664240-115664241	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532804841	chr8:115664277-115664278	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548104514	chr8:115664405-115664406	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566516189	chr8:115664441-115664442	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Sezary syndrome	18413736	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115661200-115664200	Enhancers	Dnd41	blood
2	chr8:115661800-115663200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:115663400-115663600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:115664200-115665200	Flanking Active TSS	Dnd41	blood
5	chr8:115670200-115670600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:115670400-115670800	Enhancers	Dnd41	blood
7	chr8:115689600-115692400	Enhancers	Dnd41	blood
8	chr8:115690400-115690800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:115690600-115690800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:115690800-115691000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:115690800-115691400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:115691000-115691400	Enhancers	Colon Smooth Muscle	Colon
13	chr8:115691000-115691600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:115691200-115691600	Enhancers	Adipose Nuclei	Adipose
15	chr8:115691400-115692600	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:115691400-115692600	Enhancers	Fetal Stomach	stomach
17	chr8:115691400-115692800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:115691600-115692000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:115692400-115693000	Flanking Active TSS	Dnd41	blood
20	chr8:115692600-115693600	Enhancers	Colon Smooth Muscle	Colon
21	chr8:115693000-115694400	Enhancers	Dnd41	blood
22	chr8:115693800-115694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:115694400-115695000	ZNF genes & repeats	Aorta	Aorta
24	chr8:115694400-115695000	ZNF genes & repeats	Dnd41	blood
25	chr8:115694600-115694800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:115694600-115695000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:115694800-115695000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:115694800-115695000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:115694800-115695000	ZNF genes & repeats	Lung	lung
30	chr8:115724600-115725800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:115724800-115725200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:115724800-115725600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:115725000-115726400	Enhancers	Hela-S3	cervix
34	chr8:115725600-115729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:115729200-115730200	Enhancers	Dnd41	blood
36	chr8:115729600-115730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:115730200-115732400	Weak transcription	Dnd41	blood
38	chr8:115732400-115732600	Enhancers	Dnd41	blood
39	chr8:115736000-115738200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:115740600-115741800	Enhancers	Dnd41	blood
41	chr8:115758200-115758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:115758600-115758800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:115758800-115767200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:115761800-115762000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:115767200-115767600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:115767200-115768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:115767400-115767800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:115768600-115769200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr8:115778600-115779200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:115778800-115779400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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