Variant report

Variant	nsv881262
Chromosome Location	chr5:17671109-17761671
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	BACH1	chr5:17680992-17681026	K562	blood:	n/a	n/a
2	BCL3	chr5:17694847-17695529	A549	lung:	n/a	chr5:17695250-17695259
3	BRCA1	chr5:17679984-17680257	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr5:17691746-17692676	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr5:17694481-17695921	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:17729684-17729956	IMR90	lung:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
7	CEBPB	chr5:17727071-17727684	Hela-S3	cervix:	n/a	chr5:17727253-17727266 chr5:17727329-17727342
8	CEBPB	chr5:17694987-17695485	MCF-7	breast:	n/a	n/a
9	CEBPB	chr5:17729677-17729966	K562	blood:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
10	CEBPB	chr5:17679981-17680265	ECC-1	luminal epithelium:	n/a	chr5:17680161-17680172
11	CEBPB	chr5:17729734-17729939	H1-hESC	embryonic stem cell:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
12	CEBPB	chr5:17748415-17748586	IMR90	lung:	n/a	n/a
13	CEBPB	chr5:17679822-17680468	A549	lung:	n/a	chr5:17680161-17680172
14	CEBPB	chr5:17680008-17680237	ECC-1	luminal epithelium:	n/a	chr5:17680161-17680172
15	CEBPB	chr5:17691305-17691412	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr5:17740015-17740160	Hela-S3	cervix:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
17	CEBPB	chr5:17694967-17695479	A549	lung:	n/a	n/a
18	CEBPB	chr5:17694817-17695648	A549	lung:	n/a	n/a
19	CEBPB	chr5:17679965-17680281	MCF-7	breast:	n/a	chr5:17680161-17680172
20	CEBPB	chr5:17748415-17748592	A549	lung:	n/a	n/a
21	CEBPB	chr5:17676818-17677046	A549	lung:	n/a	chr5:17676912-17676923
22	CEBPB	chr5:17680006-17680300	IMR90	lung:	n/a	chr5:17680161-17680172
23	CEBPB	chr5:17695079-17695387	A549	lung:	n/a	n/a
24	CEBPB	chr5:17676779-17677058	HepG2	liver:	n/a	chr5:17676912-17676923
25	CEBPB	chr5:17740027-17740142	A549	lung:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
26	CEBPB	chr5:17729711-17729983	Hela-S3	cervix:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
27	CEBPB	chr5:17713504-17713704	HepG2	liver:	n/a	n/a
28	CEBPB	chr5:17729587-17730068	A549	lung:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
29	CEBPB	chr5:17679987-17680283	HepG2	liver:	n/a	chr5:17680161-17680172
30	CEBPB	chr5:17729720-17730107	MCF-7	breast:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
31	CEBPB	chr5:17676850-17677041	IMR90	lung:	n/a	chr5:17676912-17676923
32	CEBPB	chr5:17676882-17676947	K562	blood:	n/a	chr5:17676912-17676923
33	CEBPB	chr5:17729679-17730005	A549	lung:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
34	CEBPB	chr5:17679986-17680295	A549	lung:	n/a	chr5:17680161-17680172
35	CEBPB	chr5:17679832-17680634	Hela-S3	cervix:	n/a	chr5:17680161-17680172
36	CEBPB	chr5:17694967-17695397	MCF-7	breast:	n/a	n/a
37	CEBPB	chr5:17729636-17730012	HepG2	liver:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
38	CEBPB	chr5:17679962-17680276	A549	lung:	n/a	chr5:17680161-17680172
39	CEBPB	chr5:17739921-17740201	HepG2	liver:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
40	CEBPB	chr5:17694461-17695782	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr5:17691832-17692471	Hela-S3	cervix:	n/a	chr5:17692053-17692070
42	CHD2	chr5:17694498-17695438	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr5:17679972-17680355	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr5:17747989-17748069	ProgFib	skin:	n/a	n/a
45	CTCF	chr5:17747250-17747282	Lung_OC	lung:	n/a	n/a
46	CTCF	chr5:17717140-17717223	GM20000	blood:	n/a	n/a
47	CTCF	chr5:17729034-17729082	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr5:17674280-17674430	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:17712922-17712949	ProgFib	skin:	n/a	n/a
50	CTCF	chr5:17748300-17748450	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
2	chr5:17217433..17219821-chr5:17690448..17693197,3	MCF-7	breast:
3	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
4	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
5	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
6	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
7	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
8	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
9	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-7	chr5:17684693-17684796	NONHSAT100665
2	lnc-BASP1-7	chr5:17684693-17684796	ENSG00000249937

Variant related genes	Relation type
ENSG00000250715	TF binding region
ENSG00000249937	TF binding region
ENSG00000176788	chromatin interactions

Extended variants
information (count: 1492 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1492 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56308908	chr5:17671682-17671683	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539250675	chr5:17671690-17671691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547672526	chr5:17671694-17671695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566153138	chr5:17671697-17671698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531947121	chr5:17671717-17671718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183638766	chr5:17671718-17671719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370758548	chr5:17671746-17671747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187998684	chr5:17671773-17671774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs181250007	chr5:17671816-17671817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554510610	chr5:17671832-17671833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568232204	chr5:17671839-17671840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs115992328	chr5:17671840-17671841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185354415	chr5:17671875-17671876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537425087	chr5:17672165-17672166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574692861	chr5:17672194-17672195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs76725405	chr5:17672195-17672196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531343162	chr5:17672208-17672209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548248679	chr5:17672234-17672235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568280223	chr5:17672235-17672236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576780726	chr5:17672284-17672285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570710444	chr5:17672330-17672331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs374991336	chr5:17672463-17672464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs556321793	chr5:17672464-17672465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs576369501	chr5:17672478-17672479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs527422035	chr5:17673700-17673701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544153859	chr5:17673757-17673758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34127975	chr5:17673765-17673766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs541110672	chr5:17673768-17673769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564300799	chr5:17673778-17673779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs143415525	chr5:17673868-17673869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549815761	chr5:17673871-17673872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs569886000	chr5:17673948-17673949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs551735183	chr5:17673959-17673960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529172552	chr5:17673969-17673970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs148366499	chr5:17673971-17673972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs565284664	chr5:17673972-17673973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565723312	chr5:17673986-17673987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs187886724	chr5:17673987-17673988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532687256	chr5:17674000-17674001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs377280234	chr5:17674018-17674019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs193197159	chr5:17674329-17674330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs185165072	chr5:17674384-17674385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564135871	chr5:17674394-17674395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113855042	chr5:17674404-17674405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs147271606	chr5:17674405-17674406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565127281	chr5:17675515-17675516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs111574339	chr5:17675538-17675539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541608998	chr5:17675618-17675619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146566638	chr5:17678809-17678810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557809002	chr5:17678818-17678819	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17678800-17680000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:17678800-17680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:17678800-17680800	Enhancers	HMEC	breast
4	chr5:17678800-17681400	Enhancers	Hela-S3	cervix
5	chr5:17679000-17680600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:17679200-17680800	Enhancers	A549	lung
7	chr5:17679600-17680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:17679600-17680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:17679800-17680200	Enhancers	NHEK	skin
10	chr5:17681400-17684400	Weak transcription	Hela-S3	cervix
11	chr5:17682800-17683000	Enhancers	Ovary	ovary
12	chr5:17683000-17684400	Weak transcription	Ovary	ovary
13	chr5:17684400-17684800	Flanking Active TSS	Ovary	ovary
14	chr5:17684400-17685200	Active TSS	Hela-S3	cervix
15	chr5:17684800-17685200	Enhancers	Ovary	ovary
16	chr5:17690200-17690800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:17690200-17690800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr5:17690200-17691600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:17691400-17697000	Enhancers	Hela-S3	cervix
20	chr5:17692000-17692200	Enhancers	HMEC	breast
21	chr5:17692200-17692400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:17692200-17692600	Enhancers	Placenta	Placenta
23	chr5:17692600-17694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:17694200-17696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:17694200-17696600	Enhancers	NHEK	skin
26	chr5:17694400-17696600	Enhancers	HMEC	breast
27	chr5:17694600-17695000	Enhancers	A549	lung
28	chr5:17694600-17696400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:17695000-17695800	Flanking Active TSS	A549	lung
30	chr5:17695400-17696000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:17695800-17696000	Enhancers	A549	lung
32	chr5:17696000-17696400	Weak transcription	A549	lung
33	chr5:17696400-17696800	Enhancers	A549	lung
34	chr5:17696600-17697200	Enhancers	Fetal Kidney	kidney
35	chr5:17699200-17699800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr5:17711800-17712000	Enhancers	A549	lung
37	chr5:17712000-17712800	Weak transcription	A549	lung
38	chr5:17712800-17713400	Enhancers	A549	lung
39	chr5:17713400-17713800	ZNF genes & repeats	Fetal Kidney	kidney
40	chr5:17713400-17713800	Flanking Active TSS	A549	lung
41	chr5:17713600-17714000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:17713800-17714200	Enhancers	A549	lung
43	chr5:17719800-17720200	Enhancers	Brain Germinal Matrix	brain
44	chr5:17719800-17720400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:17719800-17720800	Enhancers	Fetal Muscle Leg	muscle
46	chr5:17719800-17721000	Enhancers	Fetal Lung	lung
47	chr5:17720000-17720400	Enhancers	Fetal Stomach	stomach
48	chr5:17720200-17721000	Enhancers	Fetal Muscle Trunk	muscle
49	chr5:17726800-17728200	Enhancers	Hela-S3	cervix
50	chr5:17727200-17727800	Enhancers	Brain Germinal Matrix	brain

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