Variant report

Variant	nsv598297
Chromosome Location	chr5:59734004-59862453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1236)
CpG islands
(count:735)
Chromatin interactive
region (count:11)
LncRNA
region (count:35)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:59837874-59838286	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:59788755-59789293	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:59759049-59759883	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:59742744-59743990	HepG2	liver:	n/a	chr5:59743535-59743551
5	ARID3A	chr5:59782791-59784363	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:59859760-59860115	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:59788058-59788177	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:59769493-59769923	HepG2	liver:	n/a	n/a
9	ATF1	chr5:59830023-59830183	K562	blood:	n/a	n/a
10	ATF2	chr5:59799603-59800070	GM12878	blood:	n/a	n/a
11	ATF2	chr5:59836756-59838235	GM12878	blood:	n/a	n/a
12	ATF2	chr5:59836891-59837899	GM12878	blood:	n/a	n/a
13	ATF2	chr5:59799554-59800592	GM12878	blood:	n/a	n/a
14	ATF2	chr5:59790377-59790950	GM12878	blood:	n/a	n/a
15	ATF2	chr5:59822280-59822686	GM12878	blood:	n/a	n/a
16	ATF2	chr5:59817180-59818864	GM12878	blood:	n/a	n/a
17	ATF2	chr5:59817730-59818784	GM12878	blood:	n/a	n/a
18	ATF3	chr5:59758895-59759556	A549	lung:	n/a	n/a
19	BACH1	chr5:59788830-59789123	K562	blood:	n/a	n/a
20	BATF	chr5:59837857-59838127	GM12878	blood:	n/a	n/a
21	BATF	chr5:59817733-59818123	GM12878	blood:	n/a	n/a
22	BATF	chr5:59800210-59800533	GM12878	blood:	n/a	n/a
23	BATF	chr5:59837023-59837632	GM12878	blood:	n/a	n/a
24	BATF	chr5:59799565-59800001	GM12878	blood:	n/a	n/a
25	BATF	chr5:59818329-59818755	GM12878	blood:	n/a	chr5:59818490-59818501
26	BATF	chr5:59799597-59799997	GM12878	blood:	n/a	n/a
27	BATF	chr5:59837795-59838211	GM12878	blood:	n/a	n/a
28	BATF	chr5:59836987-59837677	GM12878	blood:	n/a	n/a
29	BATF	chr5:59818271-59818769	GM12878	blood:	n/a	chr5:59818490-59818501
30	BATF	chr5:59831094-59831409	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:59790507-59790809	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:59837014-59837664	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:59837051-59837649	GM12878	blood:	n/a	n/a
34	BCL3	chr5:59818298-59818758	GM12878	blood:	n/a	chr5:59818521-59818529
35	BCL3	chr5:59758809-59759695	A549	lung:	n/a	chr5:59759578-59759587
36	BCL3	chr5:59788656-59789391	A549	lung:	n/a	n/a
37	BCL3	chr5:59783314-59783823	A549	lung:	n/a	n/a
38	BCL3	chr5:59822261-59822625	GM12878	blood:	n/a	n/a
39	BCL3	chr5:59837040-59837622	GM12878	blood:	n/a	n/a
40	BCL3	chr5:59758832-59759533	A549	lung:	n/a	n/a
41	BCLAF1	chr5:59809902-59810400	GM12878	blood:	n/a	n/a
42	BCLAF1	chr5:59836901-59838177	GM12878	blood:	n/a	n/a
43	BCLAF1	chr5:59818153-59818842	GM12878	blood:	n/a	chr5:59818521-59818529
44	BCLAF1	chr5:59836981-59837692	GM12878	blood:	n/a	n/a
45	BCLAF1	chr5:59799535-59800677	GM12878	blood:	n/a	n/a
46	BCLAF1	chr5:59817041-59818795	GM12878	blood:	n/a	chr5:59818521-59818529
47	BHLHE40	chr5:59831136-59831310	GM12878	blood:	n/a	n/a
48	BHLHE40	chr5:59742844-59743730	HepG2	liver:	n/a	n/a
49	BHLHE40	chr5:59743262-59743636	HepG2	liver:	n/a	n/a
50	BHLHE40	chr5:59837053-59838215	GM12878	blood:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59837012-59837062	MCF10A-Er-Src	breast:	n/a
2	chr5:59783035-59783085	HRPEpiC	eye:	n/a
3	chr5:59824695-59824745	AG04450	lung:	fetal
4	chr5:59837012-59837062	MCF10A-Er-Src	breast:	n/a
5	chr5:59783035-59783085	HRPEpiC	eye:	n/a
6	chr5:59824695-59824745	AG04450	lung:	fetal
7	chr5:59783035-59783085	GM19239	blood:	n/a
8	chr5:59784544-59784594	HNPCEpiC	eye:	n/a
9	chr5:59783668-59783718	AG10803	skin:	n/a
10	chr5:59783629-59783679	H1-hESC	embryonic stem cell:	embryo
11	chr5:59837426-59837476	SK-N-MC	brain:	n/a
12	chr5:59837426-59837476	GM12878	blood:	n/a
13	chr5:59783668-59783718	HRCEpiC	kidney:	n/a
14	chr5:59784544-59784594	HRCEpiC	kidney:	n/a
15	chr5:59783035-59783085	PFSK-1	brain:	n/a
16	chr5:59783668-59783718	AG04450	lung:	fetal
17	chr5:59783906-59783956	H1-hESC	embryonic stem cell:	embryo
18	chr5:59824695-59824745	HRCEpiC	kidney:	n/a
19	chr5:59826471-59826521	PANC-1	pancreas:	n/a
20	chr5:59783035-59783085	SK-N-SH_RA	brain:	n/a
21	chr5:59783906-59783956	HMEC	breast:	n/a
22	chr5:59783668-59783718	SK-N-MC	brain:	n/a
23	chr5:59784544-59784594	GM12891	blood:	n/a
24	chr5:59783035-59783085	AG10803	skin:	n/a
25	chr5:59837012-59837062	GM12878	blood:	n/a
26	chr5:59783629-59783679	U87	brain:	n/a
27	chr5:59837426-59837476	AG04450	lung:	fetal
28	chr5:59784544-59784594	HCF	heart:	n/a
29	chr5:59784203-59784253	RPTEC	kidney:	n/a
30	chr5:59783668-59783718	RPTEC	kidney:	n/a
31	chr5:59837426-59837476	U87	brain:	n/a
32	chr5:59826471-59826521	AG04449	skin:	fetal
33	chr5:59783629-59783679	SAEC	small airway:	n/a
34	chr5:59783629-59783679	HEK293	kidney:	embryo
35	chr5:59837012-59837062	H1-hESC	embryonic stem cell:	embryo
36	chr5:59784544-59784594	ProgFib	skin:	n/a
37	chr5:59837426-59837476	MCF-7	breast:	n/a
38	chr5:59774763-59774813	AG04450	lung:	fetal
39	chr5:59824695-59824745	RPTEC	kidney:	n/a
40	chr5:59774763-59774813	BJ	skin:	n/a
41	chr5:59783668-59783718	GM12891	blood:	n/a
42	chr5:59784203-59784253	IMR90	lung:	fetal
43	chr5:59824695-59824745	IMR90	lung:	fetal
44	chr5:59774763-59774813	AG10803	skin:	n/a
45	chr5:59782121-59782171	HNPCEpiC	eye:	n/a
46	chr5:59784203-59784253	A549	lung:	n/a
47	chr5:59826471-59826521	SAEC	small airway:	n/a
48	chr5:59774763-59774813	NHBE	bronchial:	n/a
49	chr5:59826471-59826521	H1-hESC	embryonic stem cell:	embryo
50	chr5:59784544-59784594	HL-60	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59809546..59811841-chr5:59829888..59832066,2	K562	blood:
2	chr5:59831215..59833995-chr5:59834537..59838360,3	K562	blood:
3	chr5:59801403..59803161-chr5:59818355..59820086,2	MCF-7	breast:
4	chr1:114972833..114973619-chr5:59845525..59846067,2	MCF-7	breast:
5	chr5:59784827..59787759-chr5:59790470..59792339,3	K562	blood:
6	chr5:59750546..59752966-chr5:59754525..59756849,2	K562	blood:
7	chr5:59801403..59803161-chr5:59818355..59820086,2	MCF-7	breast:
8	chr5:59831215..59833995-chr5:59834537..59838360,3	K562	blood:
9	chr5:59783715..59786154-chr5:59800134..59801883,2	K562	blood:
10	chr5:59784827..59787759-chr5:59790470..59792339,3	K562	blood:
11	chr5:59809546..59811841-chr5:59829888..59832066,2	K562	blood:

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC109486.1-1	chr5:59841929-59843484	ENSG00000152931
2	lnc-AC109486.1-1	chr5:59816847-59822245	ENSG00000152931.7
3	lnc-AC109486.1-1	chr5:59784034-59784250	ENSG00000152931
4	lnc-AC109486.1-1	chr5:59784031-59784250	XLOC_004399
5	lnc-AC109486.1-1	chr5:59825231-59825370	NONHSAT101637
6	lnc-AC109486.1-1	chr5:59785488-59785670	XLOC_004399
7	lnc-AC109486.1-1	chr5:59816847-59817221	ENSG00000152931
8	lnc-AC109486.1-1	chr5:59829759-59829846	NONHSAT101637
9	lnc-AC109486.1-1	chr5:59784034-59784250	ENSG00000152931.7
10	lnc-AC109486.1-1	chr5:59829685-59829846	XLOC_004399
11	lnc-AC109486.1-1	chr5:59829759-59829846	ENSG00000152931
12	lnc-AC109486.1-1	chr5:59783759-59784250	NONHSAT101638
13	lnc-AC109486.1-1	chr5:59785488-59787092	ENSG00000152931
14	lnc-AC109486.1-1	chr5:59783967-59784250	ENSG00000152931
15	lnc-AC109486.1-1	chr5:59783540-59784250	ENSG00000152931
16	lnc-AC109486.1-1	chr5:59783540-59784250	NONHSAT101637
17	lnc-AC109486.1-1	chr5:59785488-59787092	NR_028508
18	lnc-AC109486.1-1	chr5:59841928-59843465	NONHSAT101641
19	lnc-AC109486.1-1	chr5:59819711-59820007	l_2924_chr5:59819710-59821457_kidney
20	lnc-AC109486.1-1	chr5:59829684-59829846	NONHSAT101641
21	lnc-AC109486.1-1	chr5:59819609-59822275	NONHSAT101640
22	lnc-AC109486.1-1	chr5:59783759-59784250	NR_028508
23	lnc-AC109486.1-1	chr5:59825231-59825370	ENSG00000152931
24	lnc-AC109486.1-1	chr5:59852604-59852635	l_2924_chr5:59819710-59821457_kidney
25	lnc-PDE4D-3	chr5:59858392-59858470	NONHSAT101643
26	lnc-PDE4D-1	chr5:59817878-59822213	XLOC_004839
27	lnc-AC109486.1-1	chr5:59821245-59821468	l_2924_chr5:59819710-59821457_kidney
28	lnc-AC109486.1-1	chr5:59785488-59787345	ENSG00000152931.7
29	lnc-AC109486.1-1	chr5:59783540-59784250	ENSG00000152931.7
30	lnc-AC109486.1-1	chr5:59841929-59843484	NONHSAT101637
31	lnc-AC109486.1-1	chr5:59841929-59843465	XLOC_004399
32	lnc-PDE4D-1	chr5:59798346-59798489	XLOC_004839
33	lnc-AC109486.1-1	chr5:59816847-59822245	NONHSAT101638
34	lnc-PDE4D-3	chr5:59857239-59857357	NONHSAT101643
35	lnc-PDE4D-3	chr5:59851419-59851496	NONHSAT101643

No data

Variant related genes	Relation type
SETP21	TF binding region
PDE4D	TF binding region
PART1	TF binding region
SETP21	CpG island
PDE4D	CpG island
PART1	CpG island
ENSG00000152931	chromatin interactions
ENSG00000214244	chromatin interactions
ENSG00000113448	chromatin interactions
FNIP1	miRNA target sites
WDR33	miRNA target sites
PRKD3	miRNA target sites
FNTA	miRNA target sites
CSNK1G1	miRNA target sites
NUCB2	miRNA target sites
PRUNE2	miRNA target sites
ONECUT2	miRNA target sites
RXRB	miRNA target sites
SNAP23	miRNA target sites

Extended variants
information (count: 3874 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3874 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16878081	chr5:59734004-59734005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34290347	chr5:59734059-59734060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16878084	chr5:59734124-59734125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563494031	chr5:59734174-59734175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76475814	chr5:59734221-59734222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7725629	chr5:59734259-59734260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559781038	chr5:59734267-59734268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2963111	chr5:59734289-59734290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564136411	chr5:59734301-59734302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531188755	chr5:59734311-59734312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376889547	chr5:59734318-59734319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111739711	chr5:59734326-59734327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs789395	chr5:59734368-59734369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568704078	chr5:59734423-59734424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141801465	chr5:59734495-59734496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144527079	chr5:59734501-59734502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550742799	chr5:59734577-59734578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528907421	chr5:59734598-59734599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16878086	chr5:59734600-59734601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2898278	chr5:59734630-59734631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571808796	chr5:59734658-59734659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115838375	chr5:59734688-59734689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190034653	chr5:59734714-59734715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs789396	chr5:59734769-59734770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73759054	chr5:59734789-59734790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575129401	chr5:59734815-59734816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181622181	chr5:59734818-59734819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577149338	chr5:59734841-59734842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16878087	chr5:59734856-59734857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs151183185	chr5:59734864-59734865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528595034	chr5:59734885-59734886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542180481	chr5:59734966-59734967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140321194	chr5:59735001-59735002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531221424	chr5:59735004-59735005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114842763	chr5:59735027-59735028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570711140	chr5:59735062-59735063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199883459	chr5:59735107-59735108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537848955	chr5:59735149-59735150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533301064	chr5:59735162-59735163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548169249	chr5:59735229-59735230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546798462	chr5:59735273-59735274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565732187	chr5:59735288-59735289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376576103	chr5:59735323-59735324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs615429	chr5:59735328-59735329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78142149	chr5:59735336-59735337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542307459	chr5:59735349-59735350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567998395	chr5:59735351-59735352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150313755	chr5:59735379-59735380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs411255	chr5:59735431-59735432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577219827	chr5:59735471-59735472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59727200-59766600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59733000-59742600	Weak transcription	Aorta	Aorta
3	chr5:59733200-59738800	Weak transcription	HepG2	liver
4	chr5:59734000-59734400	Enhancers	Fetal Kidney	kidney
5	chr5:59738800-59742800	Enhancers	HepG2	liver
6	chr5:59740000-59741200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:59740000-59741600	Enhancers	Fetal Brain Male	brain
8	chr5:59740200-59740600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:59740400-59741000	Enhancers	Fetal Brain Female	brain
10	chr5:59740400-59741000	Enhancers	Hela-S3	cervix
11	chr5:59740600-59740800	Enhancers	Gastric	stomach
12	chr5:59741000-59744200	Weak transcription	Hela-S3	cervix
13	chr5:59741200-59741600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:59741600-59741800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:59741600-59743200	Enhancers	Stomach Mucosa	stomach
16	chr5:59741600-59744800	Weak transcription	Fetal Brain Male	brain
17	chr5:59741800-59783200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:59742600-59743000	Enhancers	Aorta	Aorta
19	chr5:59742600-59743000	Enhancers	A549	lung
20	chr5:59742600-59744400	Enhancers	Gastric	stomach
21	chr5:59742800-59743200	Flanking Active TSS	HepG2	liver
22	chr5:59743000-59743600	Flanking Active TSS	A549	lung
23	chr5:59743000-59743800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:59743200-59744400	Weak transcription	Stomach Mucosa	stomach
25	chr5:59743200-59745200	Enhancers	HepG2	liver
26	chr5:59743400-59743800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr5:59743600-59744000	Active TSS	A549	lung
28	chr5:59743800-59747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:59744000-59744200	Enhancers	A549	lung
30	chr5:59744200-59744400	Flanking Active TSS	A549	lung
31	chr5:59744200-59744600	Enhancers	Brain Angular Gyrus	brain
32	chr5:59744200-59744600	Active TSS	Hela-S3	cervix
33	chr5:59744400-59744600	Enhancers	Stomach Mucosa	stomach
34	chr5:59744400-59744800	Enhancers	A549	lung
35	chr5:59745200-59747400	Weak transcription	HepG2	liver
36	chr5:59747400-59750000	Enhancers	HepG2	liver
37	chr5:59747600-59748800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:59749200-59749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:59749400-59751400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:59749600-59749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:59749600-59749800	Enhancers	HMEC	breast
42	chr5:59749800-59760600	Weak transcription	Aorta	Aorta
43	chr5:59750000-59751200	Weak transcription	HepG2	liver
44	chr5:59751200-59752600	Enhancers	HepG2	liver
45	chr5:59751400-59752400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:59751600-59752000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:59751600-59752000	Enhancers	HMEC	breast
48	chr5:59751600-59753600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:59752000-59753800	Enhancers	Fetal Kidney	kidney
50	chr5:59752200-59752800	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links