Variant report

Variant	esv32587
Chromosome Location	chr8:6758468-6759983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:6758217-6758967	HepG2	liver:	n/a	n/a
2	BHLHE40	chr8:6758525-6758924	HepG2	liver:	n/a	n/a
3	CEBPB	chr8:6758617-6758965	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:6758411-6758972	HCT-116	colon:	n/a	n/a
5	CEBPB	chr8:6758617-6759038	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:6758513-6759022	A549	lung:	n/a	n/a
7	CEBPB	chr8:6758632-6758971	A549	lung:	n/a	n/a
8	CEBPB	chr8:6758693-6758915	A549	lung:	n/a	n/a
9	CEBPB	chr8:6758605-6759004	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:6758666-6758889	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:6758646-6758914	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr8:6758726-6758924	K562	blood:	n/a	n/a
13	CEBPB	chr8:6758603-6758904	MCF-7	breast:	n/a	n/a
14	CEBPB	chr8:6758387-6759030	HCT-116	colon:	n/a	n/a
15	CEBPB	chr8:6758503-6759001	HepG2	liver:	n/a	n/a
16	CEBPD	chr8:6758662-6758905	HepG2	liver:	n/a	n/a
17	CHD2	chr8:6758783-6758828	HepG2	liver:	n/a	n/a
18	E2F4	chr8:6758587-6758848	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr8:6758483-6758954	HepG2	liver:	n/a	n/a
20	EP300	chr8:6758435-6759056	HepG2	liver:	n/a	n/a
21	EP300	chr8:6758353-6759020	HepG2	liver:	n/a	n/a
22	FOS	chr8:6758272-6759007	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr8:6758334-6759038	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr8:6758066-6758984	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr8:6758258-6758969	MCF10A-Er-Src	breast:	n/a	n/a
26	FOSL1	chr8:6758379-6758854	HCT-116	colon:	n/a	n/a
27	FOSL2	chr8:6758418-6758727	HepG2	liver:	n/a	n/a
28	FOXA1	chr8:6758496-6758853	HepG2	liver:	n/a	n/a
29	FOXA1	chr8:6758355-6758911	HepG2	liver:	n/a	n/a
30	FOXA1	chr8:6758403-6758986	HepG2	liver:	n/a	n/a
31	FOXA1	chr8:6758367-6758954	HepG2	liver:	n/a	n/a
32	FOXA2	chr8:6758456-6758735	A549	lung:	n/a	n/a
33	FOXA2	chr8:6758424-6759006	HepG2	liver:	n/a	n/a
34	FOXA2	chr8:6758432-6758823	A549	lung:	n/a	n/a
35	JUN	chr8:6758507-6758700	HepG2	liver:	n/a	n/a
36	JUND	chr8:6758365-6758851	HepG2	liver:	n/a	n/a
37	MAFK	chr8:6758533-6758829	HepG2	liver:	n/a	n/a
38	MAX	chr8:6759980-6759991	HepG2	liver:	n/a	n/a
39	MAX	chr8:6758616-6758845	HepG2	liver:	n/a	chr8:6758814-6758823
40	MYBL2	chr8:6758547-6759084	HepG2	liver:	n/a	n/a
41	MYBL2	chr8:6758426-6759068	HepG2	liver:	n/a	n/a
42	MYC	chr8:6758327-6758973	MCF10A-Er-Src	breast:	n/a	chr8:6758814-6758823
43	MYC	chr8:6758372-6758958	MCF10A-Er-Src	breast:	n/a	chr8:6758814-6758823
44	NR3C1	chr8:6758392-6758744	A549	lung:	n/a	n/a
45	NR3C1	chr8:6758376-6758716	A549	lung:	n/a	n/a
46	POLR2A	chr8:6758666-6759005	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr8:6758071-6759062	MCF10A-Er-Src	breast:	n/a	n/a
48	RCOR1	chr8:6758711-6758802	HepG2	liver:	n/a	n/a
49	RFX5	chr8:6758648-6758809	HepG2	liver:	n/a	chr8:6758758-6758766
50	SMC3	chr8:6758732-6758929	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6754502..6756661-chr8:6759647..6761646,2	K562	blood:
2	chr8:6751586..6753338-chr8:6758046..6759646,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA6-1	chr8:6758621-6758657	FPKM1_group_30816_transcript_1
2	lnc-DEFA6-1	chr8:6758845-6759315	FPKM1_group_30816_transcript_1
3	lnc-DEFA6-1	chr8:6758621-6758657	NONHSAT124798

No data

Variant related genes	Relation type
ENSG00000250752	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2702930	chr8:6758479-6758480	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146726722	chr8:6758486-6758487	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs77542598	chr8:6758523-6758524	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540831561	chr8:6758526-6758527	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs180725229	chr8:6758537-6758538	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs140267082	chr8:6758543-6758544	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs79804549	chr8:6758561-6758562	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs117257342	chr8:6758568-6758569	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529042017	chr8:6758572-6758573	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549656351	chr8:6758616-6758617	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs376231872	chr8:6758617-6758618	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs144068651	chr8:6758619-6758620	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558046780	chr8:6758624-6758625	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs570561867	chr8:6758632-6758633	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs114683985	chr8:6758639-6758640	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs186447403	chr8:6758648-6758649	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs55907970	chr8:6758655-6758656	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533298839	chr8:6758668-6758669	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541381982	chr8:6758676-6758677	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191525688	chr8:6758684-6758685	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572215827	chr8:6758689-6758690	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4437673	chr8:6758698-6758699	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181214454	chr8:6758716-6758717	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533508077	chr8:6758725-6758726	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs144881317	chr8:6758728-6758729	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186283243	chr8:6758742-6758743	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529316505	chr8:6758760-6758761	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190463366	chr8:6758779-6758780	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs2738143	chr8:6758816-6758817	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548682039	chr8:6758818-6758819	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs551991633	chr8:6758847-6758848	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs149041772	chr8:6758853-6758854	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs2741060	chr8:6758856-6758857	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548208138	chr8:6758860-6758861	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs60617265	chr8:6758861-6758862	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183411021	chr8:6758873-6758874	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs56177908	chr8:6758878-6758879	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572341116	chr8:6758891-6758892	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs534605648	chr8:6758897-6758898	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs187770160	chr8:6758901-6758902	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs114832251	chr8:6758909-6758910	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs543603123	chr8:6758913-6758914	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs143035054	chr8:6758919-6758920	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs574154346	chr8:6758967-6758968	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs386721891	chr8:6758979-6758980	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs75133580	chr8:6758980-6758981	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs10108369	chr8:6759008-6759009	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565195313	chr8:6759019-6759020	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs539579769	chr8:6759028-6759029	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs10111278	chr8:6759032-6759033	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6753200-6760000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:6753200-6760000	Weak transcription	Esophagus	oesophagus
3	chr8:6757200-6760600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:6757400-6761600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:6757800-6759400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:6757800-6760000	Weak transcription	Pancreas	Pancrea
7	chr8:6758000-6759400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:6758000-6760600	Enhancers	NHEK	skin
9	chr8:6758000-6761200	Enhancers	HepG2	liver
10	chr8:6758200-6758600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:6758200-6758600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:6758200-6758600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:6758200-6758800	Flanking Active TSS	HMEC	breast
14	chr8:6758400-6758800	Enhancers	Stomach Mucosa	stomach
15	chr8:6758400-6759200	Enhancers	A549	lung
16	chr8:6758600-6759000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:6758800-6761600	Enhancers	HMEC	breast
18	chr8:6759200-6767000	Weak transcription	A549	lung
19	chr8:6759400-6759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:6759400-6760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:6759800-6760800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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