Variant report

Variant	nsv598259
Chromosome Location	chr5:58993297-59038610
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	ATF2	chr5:59005135-59005567	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:59005081-59005496	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:59009027-59009230	K562	blood:	n/a	n/a
4	BCL11A	chr5:59005221-59005381	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr5:59005117-59005450	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr5:59017406-59017428	GM12878	blood:	n/a	n/a
7	CEBPB	chr5:59018686-59019146	Hela-S3	cervix:	n/a	chr5:59019061-59019074
8	CEBPB	chr5:58999729-58999865	A549	lung:	n/a	n/a
9	CEBPB	chr5:59007177-59007438	HepG2	liver:	n/a	chr5:59007279-59007290 chr5:59007277-59007288
10	CEBPB	chr5:59007143-59007476	A549	lung:	n/a	chr5:59007279-59007290 chr5:59007277-59007288
11	CEBPB	chr5:58995910-58995921	HepG2	liver:	n/a	n/a
12	CEBPB	chr5:59007060-59007575	A549	lung:	n/a	chr5:59007279-59007290 chr5:59007277-59007288
13	CEBPB	chr5:59020408-59020863	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr5:59007127-59007493	Hela-S3	cervix:	n/a	chr5:59007279-59007290 chr5:59007277-59007288
15	CEBPB	chr5:59028745-59028968	A549	lung:	n/a	chr5:59028851-59028860 chr5:59028851-59028860 chr5:59028851-59028860 chr5:59028851-59028860
16	CEBPB	chr5:59007192-59007371	H1-hESC	embryonic stem cell:	n/a	chr5:59007279-59007290 chr5:59007277-59007288
17	CEBPB	chr5:59028709-59029026	Hela-S3	cervix:	n/a	chr5:59028851-59028860 chr5:59028851-59028860 chr5:59028851-59028860 chr5:59028851-59028860
18	CTCF	chr5:59020500-59020650	GM12868	blood:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
19	CTCF	chr5:59010448-59010453	Fibrobl	skin:	n/a	n/a
20	CTCF	chr5:59020460-59020610	SK-N-SH_RA	brain:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
21	CTCF	chr5:59020368-59020684	H1-hESC	embryonic stem cell:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
22	CTCF	chr5:59019727-59021086	A549	lung:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
23	CTCF	chr5:59010220-59010370	HCM	heart:	n/a	n/a
24	CTCF	chr5:59020301-59020688	T-47D	breast:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
25	CTCF	chr5:59020380-59020690	A549	lung:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
26	CTCF	chr5:59020380-59020629	K562	blood:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
27	CTCF	chr5:59010420-59010570	GM12864	blood:	n/a	n/a
28	CTCF	chr5:59020422-59020597	MCF-7	breast:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
29	CTCF	chr5:59020460-59020610	BE2_C	brain:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
30	CTCF	chr5:59020416-59020641	Hela-S3	cervix:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
31	CTCF	chr5:59020480-59020630	GM12865	blood:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
32	CTCF	chr5:59010420-59010570	A549	lung:	n/a	n/a
33	CTCF	chr5:59020460-59020610	AG09319	gingival:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
34	CTCF	chr5:59019980-59020130	BJ	skin:	n/a	n/a
35	CTCF	chr5:59020480-59020630	RPTEC	kidney:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
36	CTCF	chr5:59020440-59020590	WERI-Rb-1	eye:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
37	CTCF	chr5:59020395-59020650	MCF-7	breast:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
38	CTCF	chr5:59020440-59020590	HL-60	blood:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
39	CTCF	chr5:59020435-59020675	Lung_OC	lung:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
40	CTCF	chr5:59020480-59020630	SAEC	small airway:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
41	CTCF	chr5:59020375-59020630	SK-N-SH_RA	brain:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
42	CTCF	chr5:59020540-59020690	HCM	heart:	n/a	n/a
43	CTCF	chr5:59020421-59020580	H1-hESC	embryonic stem cell:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
44	CTCF	chr5:59020480-59020630	HVMF	connective:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
45	CTCF	chr5:59020400-59020550	WI-38	lung:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
46	CTCF	chr5:59020480-59020630	MCF-7	breast:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
47	CTCF	chr5:59020600-59020750	GM12866	blood:	n/a	n/a
48	CTCF	chr5:59020420-59020570	AG04449	skin:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
49	CTCF	chr5:59020420-59020570	Caco-2	colon:	n/a	chr5:59020519-59020528 chr5:59020518-59020539 chr5:59020516-59020534
50	CTCF	chr5:59020320-59020470	HFF-Myc	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:59002219..59005898-chr5:59006477..59009673,3	K562	blood:
2	chr5:58968638..58970043-chr5:59019689..59021106,4	MCF-7	breast:
3	chr5:59022602..59025084-chr5:59040662..59042603,2	MCF-7	breast:
4	chr5:59002219..59005898-chr5:59006477..59009673,3	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-582-3p	chr5:58999456-58999477	MIMAT0004797
hsa-miR-582-5p	chr5:58999492-58999514	MIMAT0003247

Variant related genes	Relation type
MIR582	TF binding region
MCL1	Mature miRNA region

Extended variants
information (count: 1533 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1533 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs298087	chr5:58993297-58993298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186659883	chr5:58993359-58993360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563054175	chr5:58993395-58993396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538035742	chr5:58993481-58993482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549840268	chr5:58993505-58993506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144464356	chr5:58993520-58993521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148162857	chr5:58993584-58993585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142025238	chr5:58993644-58993645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192407705	chr5:58993689-58993690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532986700	chr5:58993705-58993706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546615848	chr5:58993728-58993729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566612889	chr5:58993767-58993768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528949474	chr5:58993785-58993786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548926931	chr5:58993834-58993835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75866632	chr5:58993918-58993919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534034549	chr5:58993921-58993922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73758856	chr5:58993941-58993942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73758857	chr5:58993986-58993987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571202564	chr5:58994018-58994019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73758858	chr5:58994034-58994035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553706486	chr5:58994061-58994062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150699223	chr5:58994079-58994080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543083351	chr5:58994188-58994189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6895425	chr5:58994205-58994206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139847698	chr5:58994254-58994255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185502943	chr5:58994257-58994258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567294642	chr5:58994292-58994293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576820492	chr5:58994295-58994296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11433607	chr5:58994332-58994333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397978221	chr5:58994334-58994335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527981994	chr5:58994366-58994367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115158202	chr5:58994424-58994425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57672652	chr5:58994443-58994444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114107228	chr5:58994498-58994499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144834039	chr5:58994499-58994500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114072744	chr5:58994514-58994515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs298088	chr5:58994526-58994527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147470726	chr5:58994535-58994536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533787480	chr5:58994552-58994553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553773969	chr5:58994575-58994576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140026868	chr5:58994584-58994585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536237883	chr5:58994588-58994589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62370498	chr5:58994592-58994593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116143094	chr5:58994688-58994689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72751221	chr5:58994749-58994750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568224914	chr5:58994814-58994815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559154078	chr5:58994899-58994900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572799040	chr5:58994941-58994942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541711031	chr5:58994975-58994976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73758859	chr5:58994991-58994992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58981200-59009000	Weak transcription	Hela-S3	cervix
2	chr5:58982000-59004800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:58982400-58999400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:58990200-58997200	Weak transcription	A549	lung
5	chr5:58990600-59000800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:58991400-58994000	Weak transcription	Fetal Lung	lung
7	chr5:58992200-58993400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:58992200-58993600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:58992800-59001000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:58993000-58999600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:58993400-59000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:58993600-58995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:58993800-58996600	Weak transcription	Gastric	stomach
14	chr5:58994000-58994400	Enhancers	Fetal Lung	lung
15	chr5:58994400-58999600	Weak transcription	Fetal Lung	lung
16	chr5:58994600-58994800	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:58994600-58995000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:58994800-59009000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:58995000-58996800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:58995400-58996000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:58996000-58999200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:58996400-58996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:58996600-58996800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:58996600-58997800	Enhancers	Gastric	stomach
25	chr5:58996600-59004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:58996800-58997000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:58996800-58997200	Enhancers	Colon Smooth Muscle	Colon
28	chr5:58996800-59001000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:58997000-58997200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:58997200-58997600	Genic enhancers	A549	lung
31	chr5:58997200-59000800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:58997200-59004800	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:58997400-59001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:58997600-58998000	Strong transcription	A549	lung
35	chr5:58997800-58999400	Weak transcription	Gastric	stomach
36	chr5:58998000-58999400	Weak transcription	A549	lung
37	chr5:58999200-58999400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:58999200-58999600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:58999400-58999800	Enhancers	Gastric	stomach
40	chr5:58999400-59000000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:58999400-59000000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:58999400-59000000	Enhancers	A549	lung
43	chr5:58999400-59000800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:58999600-58999800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:58999600-59000400	Enhancers	Fetal Stomach	stomach
46	chr5:58999600-59001000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:58999600-59001600	Active TSS	Fetal Brain Male	brain
48	chr5:58999600-59002200	Enhancers	Fetal Lung	lung
49	chr5:58999800-59000600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:58999800-59009000	Weak transcription	Gastric	stomach

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