Variant report

Variant	nsv1028138
Chromosome Location	chr8:53648978-53769367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1169)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1169 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:53653439-53654157	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:53736377-53736496	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:53655962-53656401	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:53649716-53650068	HepG2	liver:	n/a	n/a
5	ATF2	chr8:53706285-53706764	GM12878	blood:	n/a	n/a
6	BACH1	chr8:53737850-53738162	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr8:53669704-53669715	K562	blood:	n/a	n/a
8	BACH1	chr8:53752697-53752724	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr8:53730807-53730831	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr8:53752228-53752795	GM12878	blood:	n/a	n/a
11	BCL3	chr8:53752546-53752884	GM12878	blood:	n/a	chr8:53752683-53752692
12	BHLHE40	chr8:53705737-53706234	GM12878	blood:	n/a	n/a
13	BHLHE40	chr8:53706468-53706729	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:53657221-53657310	K562	blood:	n/a	n/a
15	BRCA1	chr8:53756167-53756690	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr8:53649767-53650113	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr8:53732433-53732923	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr8:53718484-53718948	HCT-116	colon:	n/a	n/a
19	CBX3	chr8:53718625-53718878	K562	blood:	n/a	n/a
20	CBX3	chr8:53718617-53718855	K562	blood:	n/a	n/a
21	CBX3	chr8:53713264-53713721	HCT-116	colon:	n/a	n/a
22	CBX3	chr8:53703257-53703723	HCT-116	colon:	n/a	n/a
23	CBX3	chr8:53718461-53718891	HCT-116	colon:	n/a	n/a
24	CBX3	chr8:53655808-53656400	HCT-116	colon:	n/a	n/a
25	CBX3	chr8:53676556-53677517	HCT-116	colon:	n/a	n/a
26	CBX3	chr8:53713243-53713724	HCT-116	colon:	n/a	n/a
27	CEBPB	chr8:53724602-53724785	A549	lung:	n/a	n/a
28	CEBPB	chr8:53683447-53683741	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr8:53703501-53703815	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr8:53671321-53671649	IMR90	lung:	n/a	chr8:53671467-53671478
31	CEBPB	chr8:53752543-53752843	Hela-S3	cervix:	n/a	chr8:53752731-53752742 chr8:53752731-53752742 chr8:53752731-53752744
32	CEBPB	chr8:53724633-53724811	HepG2	liver:	n/a	n/a
33	CEBPB	chr8:53737808-53738283	Hela-S3	cervix:	n/a	chr8:53738190-53738203
34	CEBPB	chr8:53676843-53677179	A549	lung:	n/a	n/a
35	CEBPB	chr8:53684645-53684902	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr8:53736308-53736667	HepG2	liver:	n/a	chr8:53736481-53736492
37	CEBPB	chr8:53676763-53677300	A549	lung:	n/a	n/a
38	CEBPB	chr8:53724677-53724796	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr8:53733503-53733820	HepG2	liver:	n/a	chr8:53733578-53733589
40	CEBPB	chr8:53736212-53736785	Hela-S3	cervix:	n/a	chr8:53736481-53736492
41	CEBPB	chr8:53653422-53654150	HepG2	liver:	n/a	chr8:53653987-53653998 chr8:53653987-53653998 chr8:53653985-53653998 chr8:53653985-53653996
42	CEBPB	chr8:53729292-53729595	A549	lung:	n/a	chr8:53729422-53729433
43	CEBPB	chr8:53736316-53736670	H1-hESC	embryonic stem cell:	n/a	chr8:53736481-53736492
44	CEBPB	chr8:53649677-53650001	Hela-S3	cervix:	n/a	chr8:53649885-53649898
45	CEBPB	chr8:53744690-53745080	A549	lung:	n/a	n/a
46	CEBPB	chr8:53732547-53732958	MCF-7	breast:	n/a	n/a
47	CEBPB	chr8:53676751-53677242	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr8:53704551-53704575	A549	lung:	n/a	n/a
49	CEBPB	chr8:53736203-53736837	A549	lung:	n/a	chr8:53736481-53736492
50	CEBPB	chr8:53649655-53649960	H1-hESC	embryonic stem cell:	n/a	chr8:53649885-53649898

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:53653974..53655794-chr8:53756951..53758784,2	MCF-7	breast:
2	chr8:53656094..53658855-chr8:53660380..53662129,2	MCF-7	breast:
3	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
4	chr8:53645160..53646715-chr8:53654221..53656472,2	K562	blood:
5	chr8:53711623..53712255-chr8:53854248..53854877,2	MCF-7	breast:
6	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
7	chr8:53649723..53650709-chr8:53861922..53862952,3	MCF-7	breast:
8	chr8:53676710..53678990-chr8:53681046..53682714,2	MCF-7	breast:
9	chr8:53654502..53656554-chr8:53850815..53853562,2	MCF-7	breast:
10	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
11	chr8:53649371..53650945-chr8:53853868..53854778,6	MCF-7	breast:
12	chr8:53682437..53684027-chr8:53685716..53687633,2	MCF-7	breast:
13	chr7:61969210..61969976-chr8:53657642..53658150,2	MCF-7	breast:
14	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
15	chr8:53649708..53650309-chr8:53861493..53862325,2	MCF-7	breast:
16	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
17	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
18	chr8:53682437..53684027-chr8:53685716..53687633,2	MCF-7	breast:
19	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
20	chr8:53653974..53655794-chr8:53756951..53758784,2	MCF-7	breast:
21	chr8:53490108..53490739-chr8:53649694..53650429,2	MCF-7	breast:
22	chr8:53689610..53691710-chr8:53692191..53695139,2	K562	blood:
23	chr8:53627614..53630487-chr8:53664001..53666801,2	K562	blood:
24	chr1:221812817..221813738-chr8:53687326..53688171,2	MCF-7	breast:
25	chr8:53683660..53686636-chr8:53704958..53706568,2	MCF-7	breast:
26	chr8:53649395..53650276-chr8:53853945..53854772,3	MCF-7	breast:
27	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
28	chr8:53625824..53627381-chr8:53665181..53668029,2	K562	blood:
29	chr8:53649575..53650317-chrX:24516398..24516929,2	MCF-7	breast:
30	chr8:53627655..53629298-chr8:53662388..53664857,2	K562	blood:
31	chr8:53636304..53636924-chr8:53649658..53650305,2	K562	blood:
32	chr8:53676710..53678990-chr8:53681046..53682714,2	MCF-7	breast:
33	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
34	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
35	chr8:53689610..53691710-chr8:53692191..53695139,2	K562	blood:
36	chr8:53683660..53686636-chr8:53704958..53706568,2	MCF-7	breast:

No data

Variant related genes	Relation type
RB1CC1	TF binding region
ENSG00000023287	chromatin interactions
ENSG00000183729	chromatin interactions

Extended variants
information (count: 4486 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4486 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553185992	chr8:53648982-53648983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148486278	chr8:53648985-53648986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142729390	chr8:53649036-53649037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79764383	chr8:53649113-53649114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76062428	chr8:53649158-53649159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80278384	chr8:53649165-53649166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376765064	chr8:53649194-53649195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531008477	chr8:53649234-53649235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558806966	chr8:53649248-53649249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111451414	chr8:53649289-53649290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188615797	chr8:53649329-53649330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558022137	chr8:53649345-53649346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181058562	chr8:53649409-53649410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139939943	chr8:53649448-53649449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555427659	chr8:53649468-53649469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184351909	chr8:53649482-53649483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541024343	chr8:53649490-53649491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559265573	chr8:53649494-53649495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577823294	chr8:53649509-53649510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190228600	chr8:53649526-53649527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563312283	chr8:53649532-53649533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544704138	chr8:53649599-53649600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182303009	chr8:53649614-53649615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143651886	chr8:53649669-53649670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560959003	chr8:53649693-53649694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538691005	chr8:53649710-53649711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146816584	chr8:53649723-53649724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202054547	chr8:53649747-53649748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111992249	chr8:53649755-53649756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140430367	chr8:53649834-53649835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566379167	chr8:53649935-53649936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187298291	chr8:53650158-53650159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539715204	chr8:53650170-53650171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551965506	chr8:53650217-53650218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113840086	chr8:53650221-53650222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570189674	chr8:53650322-53650323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150406066	chr8:53650386-53650387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555487637	chr8:53650387-53650388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558074300	chr8:53650404-53650405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78152280	chr8:53650520-53650521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111593721	chr8:53650525-53650526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534709311	chr8:53650538-53650539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367602658	chr8:53650688-53650689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577893203	chr8:53650691-53650692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370373829	chr8:53650692-53650693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578031549	chr8:53650726-53650727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544942312	chr8:53650762-53650763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563575536	chr8:53650767-53650768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575394922	chr8:53650803-53650804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79111541	chr8:53650819-53650820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	21645411	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53639400-53652800	Weak transcription	Left Ventricle	heart
2	chr8:53649800-53651000	Enhancers	Dnd41	blood
3	chr8:53650000-53651000	Enhancers	HMEC	breast
4	chr8:53650000-53651400	Enhancers	Hela-S3	cervix
5	chr8:53650400-53650600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:53650400-53650800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:53650400-53650800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:53650400-53650800	Enhancers	NHEK	skin
9	chr8:53650600-53650800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:53650600-53652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:53650800-53652200	Weak transcription	NHEK	skin
12	chr8:53650800-53652400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:53650800-53652600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:53651000-53652200	Weak transcription	Dnd41	blood
15	chr8:53651000-53655200	Weak transcription	HMEC	breast
16	chr8:53651400-53651800	Weak transcription	Hela-S3	cervix
17	chr8:53651800-53656800	Enhancers	Hela-S3	cervix
18	chr8:53652200-53653000	Enhancers	Dnd41	blood
19	chr8:53652200-53653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:53652200-53654200	Enhancers	HUVEC	blood vessel
21	chr8:53652200-53657000	Enhancers	NHEK	skin
22	chr8:53652400-53653000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:53652600-53653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:53652800-53653000	Enhancers	Left Ventricle	heart
25	chr8:53653000-53653800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:53653000-53655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:53653000-53655800	Weak transcription	Dnd41	blood
28	chr8:53653200-53654400	Enhancers	HepG2	liver
29	chr8:53653400-53655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:53653600-53653800	Enhancers	A549	lung
31	chr8:53653600-53655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:53653800-53654200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:53654200-53655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:53654200-53655400	Weak transcription	HUVEC	blood vessel
35	chr8:53654400-53655600	Weak transcription	HepG2	liver
36	chr8:53655200-53656800	Enhancers	HMEC	breast
37	chr8:53655400-53656200	Enhancers	HSMM	muscle
38	chr8:53655400-53656800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:53655400-53656800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:53655400-53656800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:53655400-53656800	Enhancers	HUVEC	blood vessel
42	chr8:53655600-53656600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:53655600-53656600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:53655600-53656600	Enhancers	HepG2	liver
45	chr8:53655600-53656600	Enhancers	NH-A	brain
46	chr8:53655600-53656800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:53655600-53656800	Enhancers	A549	lung
48	chr8:53655600-53656800	Enhancers	HSMMtube	muscle
49	chr8:53655600-53657400	Enhancers	Esophagus	oesophagus
50	chr8:53655800-53656400	Enhancers	Dnd41	blood

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