Variant report

Variant	esv3374029
Chromosome Location	chr8:6759592-6762390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr8:6760677-6761039	GM12878	blood:	n/a	n/a
2	BCL3	chr8:6760541-6761038	GM12878	blood:	n/a	n/a
3	CEBPB	chr8:6761611-6761727	HepG2	liver:	n/a	n/a
4	CTCF	chr8:6762381-6762445	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr8:6760720-6760824	GM19239	blood:	n/a	n/a
6	MAX	chr8:6759980-6759991	HepG2	liver:	n/a	n/a
7	MAX	chr8:6761693-6761804	HepG2	liver:	n/a	n/a
8	MYC	chr8:6760793-6760828	GM12878	blood:	n/a	n/a
9	NFATC1	chr8:6760608-6760946	GM12878	blood:	n/a	n/a
10	PBX3	chr8:6760731-6761022	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:6760838-6760990	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:6760741-6760930	HepG2	liver:	n/a	n/a
13	SUZ12	chr8:6760631-6760965	H1-hESC	embryonic stem cell:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6762336-6762386	AG04450	lung:	fetal
2	chr8:6762336-6762386	AG04450	lung:	fetal
3	chr8:6762336-6762386	HL-60	blood:	n/a
4	chr8:6762336-6762386	RPTEC	kidney:	n/a
5	chr8:6762336-6762386	HCF	heart:	n/a
6	chr8:6762336-6762386	Jurkat	blood:	n/a
7	chr8:6762336-6762386	MCF10A-Er-Src	breast:	n/a
8	chr8:6762336-6762386	ECC-1	luminal epithelium:	n/a
9	chr8:6762336-6762386	U87	brain:	n/a
10	chr8:6762336-6762386	BJ	skin:	n/a
11	chr8:6762336-6762386	Hela-S3	cervix:	n/a
12	chr8:6762336-6762386	SK-N-SH_RA	brain:	n/a
13	chr8:6762336-6762386	GM12892	blood:	n/a
14	chr8:6762336-6762386	GM06990	blood:	n/a
15	chr8:6762336-6762386	AoSMC	blood vessel:	n/a
16	chr8:6762336-6762386	SKMC	muscle:	n/a
17	chr8:6762336-6762386	ovcar-3	ovarian:	n/a
18	chr8:6762336-6762386	HEK293	kidney:	embryo
19	chr8:6762336-6762386	HRPEpiC	eye:	n/a
20	chr8:6762336-6762386	NH-A	brain:	n/a
21	chr8:6762336-6762386	HNPCEpiC	eye:	n/a
22	chr8:6762336-6762386	SK-N-MC	brain:	n/a
23	chr8:6762336-6762386	HEEpiC	esophagus:	n/a
24	chr8:6762336-6762386	A549	lung:	n/a
25	chr8:6762336-6762386	AG04449	skin:	fetal
26	chr8:6762336-6762386	SK-N-SH	brain:	n/a
27	chr8:6762336-6762386	PFSK-1	brain:	n/a
28	chr8:6762336-6762386	T-47D	breast:	n/a
29	chr8:6762336-6762386	NT2-D1	testis:	n/a
30	chr8:6762336-6762386	BE2_C	brain:	n/a
31	chr8:6762336-6762386	HRCEpiC	kidney:	n/a
32	chr8:6762336-6762386	HCPEpiC	choroid plexus:	n/a
33	chr8:6762336-6762386	HCM	heart:	n/a
34	chr8:6762336-6762386	HRE	kidney:	n/a
35	chr8:6762336-6762386	HIPEpiC	eye:	n/a
36	chr8:6762336-6762386	GM19239	blood:	n/a
37	chr8:6762336-6762386	NB4	blood:	n/a
38	chr8:6762336-6762386	H1-hESC	embryonic stem cell:	embryo
39	chr8:6762336-6762386	HPAEpiC	pulmonary alveolar:	n/a
40	chr8:6762336-6762386	GM12878	blood:	n/a
41	chr8:6762336-6762386	AG09319	gingival:	n/a
42	chr8:6762336-6762386	IMR90	lung:	fetal
43	chr8:6762336-6762386	GM12891	blood:	n/a
44	chr8:6762336-6762386	PrEC	prostate:	n/a
45	chr8:6762336-6762386	MCF-7	breast:	n/a
46	chr8:6762336-6762386	K562	blood:	n/a
47	chr8:6762336-6762386	AG09309	skin:	n/a
48	chr8:6762336-6762386	HepG2	liver:	n/a
49	chr8:6762336-6762386	ProgFib	skin:	n/a
50	chr8:6762336-6762386	AG10803	skin:	n/a

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA6-1	chr8:6760861-6761331	NONHSAT124798

No data

Variant related genes	Relation type
ENSG00000250752	TF binding region
ENSG00000250752	CpG island

Extended variants
information (count: 235 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138139093	chr8:6759599-6759600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543861810	chr8:6759616-6759617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536404892	chr8:6759635-6759636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553205360	chr8:6759644-6759645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149554057	chr8:6759675-6759676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545098242	chr8:6759686-6759687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192990422	chr8:6759687-6759688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575576351	chr8:6759688-6759689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2741062	chr8:6759693-6759694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10097530	chr8:6759702-6759703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144246127	chr8:6759731-6759732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540788048	chr8:6759747-6759748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183975863	chr8:6759770-6759771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561836470	chr8:6759775-6759776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370311976	chr8:6759776-6759777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540055492	chr8:6759804-6759805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148678436	chr8:6759820-6759821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77686756	chr8:6759825-6759826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551430836	chr8:6759830-6759831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187371154	chr8:6759831-6759832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191915599	chr8:6759893-6759894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377687932	chr8:6759901-6759902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143494277	chr8:6759907-6759908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567516166	chr8:6759919-6759920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375614671	chr8:6759948-6759949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553108510	chr8:6759956-6759957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566884724	chr8:6759957-6759958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2741714	chr8:6759967-6759968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558576734	chr8:6759978-6759979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537079388	chr8:6759981-6759982	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs75222947	chr8:6760004-6760005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57412087	chr8:6760042-6760043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60240043	chr8:6760074-6760075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546735919	chr8:6760079-6760080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184751866	chr8:6760082-6760083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371677789	chr8:6760083-6760084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566534375	chr8:6760106-6760107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112856467	chr8:6760124-6760125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386721892	chr8:6760125-6760126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73661305	chr8:6760126-6760127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2741063	chr8:6760131-6760132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2702933	chr8:6760142-6760143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs550564283	chr8:6760143-6760144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2741064	chr8:6760152-6760153	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139333934	chr8:6760221-6760222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546515880	chr8:6760231-6760232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552143013	chr8:6760258-6760259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570854534	chr8:6760263-6760264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538402384	chr8:6760272-6760273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190511373	chr8:6760276-6760277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:55 , 50 per page) page: 1 2

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	chr8:6757800-6760000	Weak transcription	Pancreas	Pancrea
6	chr8:6758000-6760600	Enhancers	NHEK	skin
7	chr8:6758000-6761200	Enhancers	HepG2	liver
8	chr8:6758800-6761600	Enhancers	HMEC	breast
9	chr8:6759200-6767000	Weak transcription	A549	lung
10	chr8:6759400-6759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:6759400-6760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:6759800-6760800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:6760000-6760200	Enhancers	Left Ventricle	heart
14	chr8:6760000-6760400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:6760000-6760600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:6760000-6760600	Enhancers	Fetal Kidney	kidney
17	chr8:6760000-6760800	Enhancers	Spleen	Spleen
18	chr8:6760000-6761200	Enhancers	Pancreas	Pancrea
19	chr8:6760000-6761400	Enhancers	Lung	lung
20	chr8:6760000-6761600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:6760000-6761600	Enhancers	Esophagus	oesophagus
22	chr8:6760000-6762200	Enhancers	Fetal Intestine Large	intestine
23	chr8:6760400-6760800	Enhancers	Fetal Heart	heart
24	chr8:6760400-6761600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:6760400-6762000	Enhancers	Fetal Lung	lung
26	chr8:6760600-6760800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:6760600-6760800	Enhancers	Gastric	stomach
28	chr8:6760600-6761000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr8:6760600-6761000	Flanking Active TSS	Fetal Kidney	kidney
30	chr8:6760600-6761200	Flanking Active TSS	NHEK	skin
31	chr8:6760800-6761000	Enhancers	Left Ventricle	heart
32	chr8:6760800-6761200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:6760800-6761200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:6760800-6762600	Enhancers	Fetal Intestine Small	intestine
35	chr8:6761000-6761400	Enhancers	Placenta	Placenta
36	chr8:6761000-6762000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:6761000-6762000	Enhancers	Liver	Liver
38	chr8:6761000-6762800	Enhancers	Fetal Kidney	kidney
39	chr8:6761200-6761400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:6761200-6761400	Enhancers	NHEK	skin
41	chr8:6761200-6761600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:6761200-6761600	Flanking Active TSS	HepG2	liver
43	chr8:6761200-6762000	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:6761200-6762200	Weak transcription	Pancreas	Pancrea
45	chr8:6761400-6762200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:6761400-6766200	Weak transcription	NHEK	skin
47	chr8:6761600-6762000	Enhancers	HepG2	liver
48	chr8:6761600-6765800	Weak transcription	Esophagus	oesophagus
49	chr8:6761600-6766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:6761600-6766400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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