Variant report

Variant	nsv830023
Chromosome Location	chr4:104333042-104522801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:921)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:46)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:921 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:104345942-104346347	HepG2	liver:	n/a	n/a
2	ATF2	chr4:104419161-104420265	GM12878	blood:	n/a	n/a
3	ATF2	chr4:104419101-104420228	GM12878	blood:	n/a	n/a
4	ATF2	chr4:104417885-104418377	GM12878	blood:	n/a	n/a
5	ATF2	chr4:104350391-104350892	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:104350345-104350827	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr4:104350494-104350803	GM12878	blood:	n/a	n/a
8	BATF	chr4:104418806-104420212	GM12878	blood:	n/a	n/a
9	BATF	chr4:104419352-104419835	GM12878	blood:	n/a	n/a
10	BATF	chr4:104418000-104418361	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:104419281-104420137	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:104419414-104419799	GM12878	blood:	n/a	n/a
13	BCL3	chr4:104419869-104420146	GM12878	blood:	n/a	n/a
14	BCL3	chr4:104419296-104419897	GM12878	blood:	n/a	n/a
15	BCL3	chr4:104419332-104419843	GM12878	blood:	n/a	n/a
16	BCLAF1	chr4:104419294-104419949	GM12878	blood:	n/a	n/a
17	BCLAF1	chr4:104419226-104419912	GM12878	blood:	n/a	n/a
18	BHLHE40	chr4:104419510-104419751	GM12878	blood:	n/a	n/a
19	CBX3	chr4:104467652-104468707	HCT-116	colon:	n/a	n/a
20	CBX3	chr4:104372463-104373014	HCT-116	colon:	n/a	n/a
21	CEBPB	chr4:104500752-104500954	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr4:104345885-104346455	Hela-S3	cervix:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
23	CEBPB	chr4:104345945-104346358	A549	lung:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
24	CEBPB	chr4:104418772-104419978	GM12878	blood:	n/a	n/a
25	CEBPB	chr4:104419458-104419807	GM12878	blood:	n/a	n/a
26	CEBPB	chr4:104372421-104373018	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr4:104346012-104346273	K562	blood:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
28	CEBPB	chr4:104366584-104366888	K562	blood:	n/a	chr4:104366712-104366723
29	CEBPB	chr4:104372305-104373107	HCT-116	colon:	n/a	n/a
30	CEBPB	chr4:104345916-104346398	HepG2	liver:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
31	CEBPB	chr4:104372399-104372968	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr4:104345952-104346257	HepG2	liver:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
33	CEBPB	chr4:104514769-104515000	A549	lung:	n/a	chr4:104514881-104514892
34	CEBPB	chr4:104361958-104362110	HepG2	liver:	n/a	n/a
35	CEBPB	chr4:104366688-104366739	H1-hESC	embryonic stem cell:	n/a	chr4:104366712-104366723
36	CEBPB	chr4:104366530-104366878	HepG2	liver:	n/a	chr4:104366712-104366723
37	CEBPB	chr4:104512846-104513091	HepG2	liver:	n/a	chr4:104512975-104512986
38	CEBPB	chr4:104403637-104403991	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr4:104514760-104515048	HepG2	liver:	n/a	chr4:104514881-104514892
40	CEBPB	chr4:104428017-104428293	A549	lung:	n/a	chr4:104428178-104428189 chr4:104428202-104428210
41	CEBPB	chr4:104427938-104428356	HepG2	liver:	n/a	chr4:104428178-104428189 chr4:104428202-104428210
42	CEBPB	chr4:104345926-104346419	H1-hESC	embryonic stem cell:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
43	CEBPB	chr4:104345928-104346517	ECC-1	luminal epithelium:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
44	CEBPB	chr4:104345984-104346310	HepG2	liver:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
45	CEBPB	chr4:104345872-104346433	ECC-1	luminal epithelium:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
46	CEBPB	chr4:104486170-104486401	HepG2	liver:	n/a	n/a
47	CEBPB	chr4:104345847-104346459	A549	lung:	n/a	chr4:104346125-104346136 chr4:104346171-104346182
48	CEBPB	chr4:104428028-104428357	IMR90	lung:	n/a	chr4:104428178-104428189 chr4:104428202-104428210
49	CEBPB	chr4:104370810-104371129	HepG2	liver:	n/a	chr4:104370972-104370983
50	CEBPB	chr4:104366577-104366900	IMR90	lung:	n/a	chr4:104366712-104366723

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:104346019-104346069	AoSMC	blood vessel:	n/a
2	chr4:104346019-104346069	SK-N-SH	brain:	n/a
3	chr4:104346019-104346069	NHDF-neo	bronchial:	n/a
4	chr4:104346019-104346069	ProgFib	skin:	n/a
5	chr4:104346019-104346069	IMR90	lung:	fetal
6	chr4:104346019-104346069	BE2_C	brain:	n/a
7	chr4:104346019-104346069	GM12892	blood:	n/a
8	chr4:104346019-104346069	AG09309	skin:	n/a
9	chr4:104346019-104346069	SK-N-MC	brain:	n/a
10	chr4:104346019-104346069	HepG2	liver:	n/a
11	chr4:104346019-104346069	K562	blood:	n/a
12	chr4:104346019-104346069	CMK	blood:	n/a
13	chr4:104346019-104346069	HIPEpiC	eye:	n/a
14	chr4:104346019-104346069	GM06990	blood:	n/a
15	chr4:104346019-104346069	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:104346019-104346069	LNCaP	prostate:	n/a
17	chr4:104346019-104346069	NB4	blood:	n/a
18	chr4:104346019-104346069	U87	brain:	n/a
19	chr4:104346019-104346069	ovcar-3	ovarian:	n/a
20	chr4:104346019-104346069	NT2-D1	testis:	n/a
21	chr4:104346019-104346069	HRCEpiC	kidney:	n/a
22	chr4:104346019-104346069	MCF10A-Er-Src	breast:	n/a
23	chr4:104346019-104346069	SK-N-SH_RA	brain:	n/a
24	chr4:104346019-104346069	HL-60	blood:	n/a
25	chr4:104346019-104346069	PFSK-1	brain:	n/a
26	chr4:104346019-104346069	HRE	kidney:	n/a
27	chr4:104346019-104346069	BJ	skin:	n/a
28	chr4:104346019-104346069	HEK293	kidney:	embryo
29	chr4:104346019-104346069	HCM	heart:	n/a
30	chr4:104346019-104346069	PrEC	prostate:	n/a
31	chr4:104346019-104346069	Hepatocyte	liver:	n/a
32	chr4:104346019-104346069	MCF-7	breast:	n/a
33	chr4:104346019-104346069	HCF	heart:	n/a
34	chr4:104346019-104346069	HCPEpiC	choroid plexus:	n/a
35	chr4:104346019-104346069	H1-hESC	embryonic stem cell:	embryo
36	chr4:104346019-104346069	T-47D	breast:	n/a
37	chr4:104346019-104346069	AG10803	skin:	n/a
38	chr4:104346019-104346069	HNPCEpiC	eye:	n/a
39	chr4:104346019-104346069	NHBE	bronchial:	n/a
40	chr4:104346019-104346069	AG09319	gingival:	n/a
41	chr4:104346019-104346069	GM12891	blood:	n/a
42	chr4:104346019-104346069	HMEC	breast:	n/a
43	chr4:104346019-104346069	SKMC	muscle:	n/a
44	chr4:104346019-104346069	PANC-1	pancreas:	n/a
45	chr4:104346019-104346069	ECC-1	luminal epithelium:	n/a
46	chr4:104346019-104346069	HAEpiC	amniotic membrane:	n/a
47	chr4:104346019-104346069	HUVEC	blood vessel:	n/a
48	chr4:104346019-104346069	AG04449	skin:	fetal
49	chr4:104346019-104346069	GM19239	blood:	n/a
50	chr4:104346019-104346069	Jurkat	blood:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:104489092..104491311-chr4:104500206..104502342,2	K562	blood:
2	chr4:104384186..104385989-chr4:104402664..104405249,2	K562	blood:
3	chr4:104494540..104497189-chr4:104498853..104501576,2	K562	blood:
4	chr4:104391486..104393423-chr4:104394414..104396129,2	K562	blood:
5	chr4:104494540..104497189-chr4:104498853..104501576,2	K562	blood:
6	chr4:104507827..104510499-chr4:104515117..104517942,2	K562	blood:
7	chr4:104466728..104468413-chr4:104469899..104472647,2	K562	blood:
8	chr4:104431298..104433427-chr4:114529450..114532171,2	K562	blood:
9	chr4:104442418..104444511-chr4:104447100..104448721,2	MCF-7	breast:
10	chr4:104424708..104427162-chr4:104428144..104430204,2	K562	blood:
11	chr4:104507827..104510499-chr4:104515117..104517942,2	K562	blood:
12	chr4:104457381..104459988-chr4:104461526..104463653,2	K562	blood:
13	chr4:104489092..104491311-chr4:104500206..104502342,2	K562	blood:
14	chr4:104391486..104393423-chr4:104394414..104396129,2	K562	blood:
15	chr4:104442418..104444511-chr4:104447100..104448721,2	MCF-7	breast:
16	chr4:104384186..104385989-chr4:104402664..104405249,2	K562	blood:
17	chr4:104457381..104459988-chr4:104461526..104463653,2	K562	blood:
18	chr4:104424708..104427162-chr4:104428144..104430204,2	K562	blood:
19	chr17:42276655..42278541-chr4:104366338..104369269,2	MCF-7	breast:
20	chr4:104412853..104415494-chr4:104656818..104659703,2	K562	blood:
21	chr4:104333746..104335920-chr4:104344875..104346775,2	MCF-7	breast:

(count:46 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TACR3-1	chr4:104480052-104480284	XLOC_004031
2	lnc-CISD2-3	chr4:104359861-104359920	XLOC_003629
3	lnc-CISD2-3	chr4:104358875-104358999	XLOC_003629
4	lnc-CISD2-3	chr4:104346212-104346342	ENSG00000248740
5	lnc-CISD2-4	chr4:104490458-104490559	ENSG00000251577.1
6	lnc-CISD2-3	chr4:104374757-104374914	XLOC_003629
7	lnc-CISD2-8	chr4:104375475-104375642	NONHSAT097636
8	lnc-CISD2-3	chr4:104346209-104346342	NONHSAT097632
9	lnc-CISD2-3	chr4:104360781-104360998	NONHSAT097630
10	lnc-CISD2-3	chr4:104358092-104358203	NONHSAT097632
11	lnc-CISD2-3	chr4:104346199-104346342	XLOC_003629
12	lnc-CISD2-3	chr4:104346198-104346573	NONHSAT097630
13	lnc-CISD2-3	chr4:104374757-104374815	ENSG00000248740
14	lnc-CISD2-3	chr4:104346223-104346342	XLOC_003629
15	lnc-CISD2-3	chr4:104358092-104358203	ENSG00000248740
16	lnc-CISD2-4	chr4:104514445-104514589	ENSG00000251577.1
17	lnc-TACR3-1	chr4:104473665-104473743	XLOC_004031
18	lnc-CISD2-3	chr4:104358875-104358999	ENSG00000248740
19	lnc-TACR3-1	chr4:104473183-104473309	XLOC_004031
20	lnc-CISD2-3	chr4:104359864-104359920	XLOC_003629
21	lnc-CISD2-4	chr4:104512364-104512600	ENSG00000251577.1
22	lnc-CISD2-3	chr4:104358092-104358203	ENSG00000248740
23	lnc-CISD2-3	chr4:104360782-104360898	ENSG00000248740
24	lnc-CISD2-3	chr4:104374757-104374963	NONHSAT097632
25	lnc-CISD2-3	chr4:104358092-104358203	XLOC_003629
26	lnc-CISD2-3	chr4:104346223-104346342	XLOC_003629
27	lnc-CISD2-3	chr4:104360782-104360998	XLOC_003629
28	lnc-CISD2-3	chr4:104358084-104358203	NONHSAT097630
29	lnc-CISD2-3	chr4:104374757-104374914	XLOC_003629
30	lnc-CISD2-3	chr4:104374757-104374914	XLOC_003629
31	lnc-CISD2-8	chr4:104375321-104375408	NONHSAT097636
32	lnc-CISD2-3	chr4:104358092-104358203	XLOC_003629
33	lnc-CISD2-3	chr4:104370248-104375195	NONHSAT097630
34	lnc-CISD2-4	chr4:104512364-104512600	ENSG00000251577.1
35	lnc-CISD2-4	chr4:104473694-104473759	ENSG00000251577.1
36	lnc-TACR3-1	chr4:104472084-104472474	XLOC_004031
37	lnc-CISD2-4	chr4:104473694-104473759	ENSG00000251577.1
38	lnc-CISD2-4	chr4:104469902-104470024	ENSG00000251577.1
39	lnc-CISD2-3	chr4:104360782-104360885	XLOC_003629
40	lnc-CISD2-3	chr4:104358874-104358999	NONHSAT097630
41	lnc-CISD2-3	chr4:104346223-104346342	XLOC_003629
42	lnc-CISD2-4	chr4:104514445-104514574	ENSG00000251577.1
43	lnc-CISD2-4	chr4:104469902-104470024	ENSG00000251577.1
44	lnc-CISD2-3	chr4:104358092-104358203	XLOC_003629
45	lnc-CISD2-3	chr4:104359860-104359920	NONHSAT097630
46	lnc-CISD2-3	chr4:104358092-104358203	XLOC_003629

No data

Variant related genes	Relation type
ENSG00000250920	TF binding region
DDX3YP3	TF binding region
ENSG00000251577	TF binding region
ENSG00000248740	TF binding region
ENSG00000250920	CpG island
DDX3YP3	CpG island
ENSG00000251577	CpG island
ENSG00000248740	CpG island
ENSG00000087152	chromatin interactions
ENSG00000251577	chromatin interactions
ENSG00000248740	chromatin interactions
NOTCH1	miRNA target sites
EIF2C1	miRNA target sites
MTOR	miRNA target sites
PLAG1	miRNA target sites

Extended variants
information (count: 3576 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3576 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531673915	chr4:104333043-104333044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181928008	chr4:104333044-104333045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185979991	chr4:104333091-104333092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535780047	chr4:104333095-104333096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548756763	chr4:104333105-104333106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191931520	chr4:104333118-104333119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376203287	chr4:104333185-104333186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182914344	chr4:104333188-104333189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188362031	chr4:104333193-104333194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564358258	chr4:104333220-104333221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555371006	chr4:104333240-104333241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573541803	chr4:104333299-104333300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146855694	chr4:104333330-104333331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560777186	chr4:104333344-104333345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190755755	chr4:104333374-104333375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533204358	chr4:104333379-104333380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545998473	chr4:104333381-104333382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182657607	chr4:104333385-104333386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79284054	chr4:104333457-104333458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186670180	chr4:104333459-104333460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569770264	chr4:104333520-104333521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568480730	chr4:104333528-104333529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375203263	chr4:104333551-104333552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368100453	chr4:104333662-104333663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192393381	chr4:104333683-104333684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539709292	chr4:104333685-104333686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370574853	chr4:104333692-104333693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557956514	chr4:104333693-104333694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139676895	chr4:104333699-104333700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111768023	chr4:104333713-104333714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28498687	chr4:104333731-104333732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144361717	chr4:104333781-104333782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183337090	chr4:104333806-104333807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540630708	chr4:104333826-104333827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187318034	chr4:104333863-104333864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6857044	chr4:104333903-104333904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546156692	chr4:104333920-104333921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs193182864	chr4:104333959-104333960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555973415	chr4:104333986-104333987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543939215	chr4:104334071-104334072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562044369	chr4:104334088-104334089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368242162	chr4:104334190-104334191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529364986	chr4:104334227-104334228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574304998	chr4:104334246-104334247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559754435	chr4:104334289-104334290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184750380	chr4:104334385-104334386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533295277	chr4:104334415-104334416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79673763	chr4:104334416-104334417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373118345	chr4:104334453-104334454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569873819	chr4:104334465-104334466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cognitive impairment	21505072	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104332200-104334200	Weak transcription	HMEC	breast
2	chr4:104333200-104333600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:104333200-104333600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:104333600-104334600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:104333600-104338600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:104333800-104334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:104334200-104334600	Enhancers	NHEK	skin
8	chr4:104334200-104334800	Enhancers	HMEC	breast
9	chr4:104334800-104336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:104334800-104343800	Weak transcription	HMEC	breast
11	chr4:104335400-104335600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:104336000-104336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:104336400-104337400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:104336800-104337400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:104336800-104337600	Enhancers	Placenta	Placenta
16	chr4:104337000-104337200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:104337400-104337600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:104337400-104341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:104340400-104340600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:104340600-104344600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:104341600-104342200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:104341600-104342200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:104343200-104344200	Enhancers	Liver	Liver
24	chr4:104343200-104344600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:104343800-104344400	Enhancers	HMEC	breast
26	chr4:104344200-104345400	Flanking Active TSS	Liver	Liver
27	chr4:104344200-104347000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:104344400-104346000	Weak transcription	HMEC	breast
29	chr4:104344600-104344800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:104344600-104345000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:104344600-104345000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:104344600-104345000	Enhancers	Pancreas	Pancrea
33	chr4:104344600-104345200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:104344600-104345800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:104344600-104346000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:104344800-104345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:104344800-104345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:104344800-104346000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:104344800-104346000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:104344800-104349000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:104345000-104345200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:104345000-104345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:104345000-104345600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:104345000-104346000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:104345000-104346000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:104345000-104346600	Weak transcription	Pancreas	Pancrea
47	chr4:104345200-104345600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:104345200-104346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:104345400-104345600	Enhancers	Liver	Liver
50	chr4:104345600-104346000	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links