Variant report

Variant	nsv871572
Chromosome Location	chr1:76161889-76208488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1002)
CpG islands
(count:1100)
Chromatin interactive
region (count:70)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:76189663-76190663	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:76172923-76173341	K562	blood:	n/a	n/a
3	ARID3A	chr1:76193195-76193385	K562	blood:	n/a	n/a
4	ARID3A	chr1:76190282-76190610	K562	blood:	n/a	n/a
5	ARID3A	chr1:76191179-76192020	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:76201849-76201984	HepG2	liver:	n/a	n/a
7	ATF1	chr1:76172970-76173277	K562	blood:	n/a	n/a
8	ATF2	chr1:76192526-76193133	GM12878	blood:	n/a	n/a
9	ATF2	chr1:76190068-76190614	GM12878	blood:	n/a	n/a
10	ATF2	chr1:76190039-76190752	GM12878	blood:	n/a	n/a
11	ATF2	chr1:76190083-76190371	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr1:76192624-76193289	GM12878	blood:	n/a	n/a
13	BACH1	chr1:76190205-76190643	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr1:76192687-76192825	GM12878	blood:	n/a	chr1:76192791-76192800
15	BCL3	chr1:76189929-76190427	A549	lung:	n/a	chr1:76190084-76190097
16	BCLAF1	chr1:76190073-76190790	K562	blood:	n/a	chr1:76190687-76190696 chr1:76190084-76190097
17	BCLAF1	chr1:76172926-76173291	K562	blood:	n/a	n/a
18	BCLAF1	chr1:76190094-76190732	GM12878	blood:	n/a	chr1:76190687-76190696
19	BCLAF1	chr1:76190088-76190821	GM12878	blood:	n/a	chr1:76190687-76190696
20	BCLAF1	chr1:76190090-76190760	K562	blood:	n/a	chr1:76190687-76190696
21	BHLHE40	chr1:76189589-76190874	K562	blood:	n/a	n/a
22	BHLHE40	chr1:76191470-76191962	HepG2	liver:	n/a	n/a
23	BHLHE40	chr1:76172885-76173277	K562	blood:	n/a	n/a
24	BHLHE40	chr1:76192365-76193431	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:76191570-76191855	HepG2	liver:	n/a	n/a
26	BHLHE40	chr1:76186904-76187053	GM12878	blood:	n/a	n/a
27	BHLHE40	chr1:76191237-76191985	GM12878	blood:	n/a	n/a
28	BHLHE40	chr1:76205743-76205759	GM12878	blood:	n/a	n/a
29	BHLHE40	chr1:76189760-76190902	GM12878	blood:	n/a	n/a
30	BRCA1	chr1:76189124-76190021	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr1:76172998-76173358	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr1:76190213-76190351	HepG2	liver:	n/a	n/a
33	BRCA1	chr1:76191324-76191488	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr1:76191589-76191872	HepG2	liver:	n/a	n/a
35	BRCA1	chr1:76190236-76190749	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr1:76188604-76189088	K562	blood:	n/a	n/a
37	CBX3	chr1:76172760-76173391	K562	blood:	n/a	n/a
38	CBX3	chr1:76188516-76189294	K562	blood:	n/a	n/a
39	CBX3	chr1:76189673-76190677	K562	blood:	n/a	chr1:76189836-76189847
40	CCNT2	chr1:76189838-76190765	K562	blood:	n/a	chr1:76190097-76190106
41	CCNT2	chr1:76172904-76173197	K562	blood:	n/a	n/a
42	CEBPB	chr1:76189564-76190590	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:76190999-76191836	Hela-S3	cervix:	n/a	chr1:76191248-76191261
44	CEBPB	chr1:76190305-76190606	K562	blood:	n/a	n/a
45	CEBPB	chr1:76205601-76205709	HepG2	liver:	n/a	n/a
46	CEBPB	chr1:76196815-76197040	K562	blood:	n/a	n/a
47	CEBPB	chr1:76191600-76191877	HepG2	liver:	n/a	n/a
48	CEBPB	chr1:76191020-76191689	K562	blood:	n/a	chr1:76191248-76191261
49	CEBPB	chr1:76172959-76173302	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr1:76189622-76190465	HepG2	liver:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:76186078-76186128	AG04450	lung:	fetal
2	chr1:76188888-76188938	SAEC	small airway:	n/a
3	chr1:76186078-76186128	AG04450	lung:	fetal
4	chr1:76188888-76188938	SAEC	small airway:	n/a
5	chr1:76188917-76188967	AG04450	lung:	fetal
6	chr1:76188832-76188882	NHDF-neo	bronchial:	n/a
7	chr1:76190172-76190222	HIPEpiC	eye:	n/a
8	chr1:76190428-76190478	Jurkat	blood:	n/a
9	chr1:76189770-76189820	PANC-1	pancreas:	n/a
10	chr1:76190172-76190222	AG04449	skin:	fetal
11	chr1:76189954-76190004	BE2_C	brain:	n/a
12	chr1:76190008-76190058	HL-60	blood:	n/a
13	chr1:76190040-76190090	ECC-1	luminal epithelium:	n/a
14	chr1:76188832-76188882	Hela-S3	cervix:	n/a
15	chr1:76190839-76190889	AG04450	lung:	fetal
16	chr1:76189801-76189851	SK-N-MC	brain:	n/a
17	chr1:76189954-76190004	AG09319	gingival:	n/a
18	chr1:76190008-76190058	SK-N-MC	brain:	n/a
19	chr1:76189801-76189851	AG09319	gingival:	n/a
20	chr1:76189770-76189820	LNCaP	prostate:	n/a
21	chr1:76189707-76189757	LNCaP	prostate:	n/a
22	chr1:76188888-76188938	HEK293	kidney:	embryo
23	chr1:76190040-76190090	U87	brain:	n/a
24	chr1:76190666-76190716	GM12878	blood:	n/a
25	chr1:76190428-76190478	HNPCEpiC	eye:	n/a
26	chr1:76189770-76189820	HAEpiC	amniotic membrane:	n/a
27	chr1:76188832-76188882	GM12878	blood:	n/a
28	chr1:76190040-76190090	SAEC	small airway:	n/a
29	chr1:76190008-76190058	SK-N-SH_RA	brain:	n/a
30	chr1:76190172-76190222	GM19239	blood:	n/a
31	chr1:76189770-76189820	Hela-S3	cervix:	n/a
32	chr1:76188917-76188967	Hepatocyte	liver:	n/a
33	chr1:76190008-76190058	HCM	heart:	n/a
34	chr1:76190172-76190222	A549	lung:	n/a
35	chr1:76189192-76189242	HRCEpiC	kidney:	n/a
36	chr1:76190839-76190889	ovcar-3	ovarian:	n/a
37	chr1:76190435-76190485	SK-N-SH_RA	brain:	n/a
38	chr1:76189707-76189757	PrEC	prostate:	n/a
39	chr1:76189707-76189757	GM12892	blood:	n/a
40	chr1:76189770-76189820	NT2-D1	testis:	n/a
41	chr1:76189770-76189820	GM19239	blood:	n/a
42	chr1:76188917-76188967	HIPEpiC	eye:	n/a
43	chr1:76188832-76188882	HCF	heart:	n/a
44	chr1:76190666-76190716	HCPEpiC	choroid plexus:	n/a
45	chr1:76189954-76190004	AoSMC	blood vessel:	n/a
46	chr1:76189801-76189851	HIPEpiC	eye:	n/a
47	chr1:76190172-76190222	GM12892	blood:	n/a
48	chr1:76190839-76190889	IMR90	lung:	fetal
49	chr1:76190172-76190222	LNCaP	prostate:	n/a
50	chr1:76189707-76189757	HRPEpiC	eye:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:76097324..76099781-chr1:76183811..76186655,2	K562	blood:
2	chr1:76158932..76160525-chr1:76160690..76162510,2	K562	blood:
3	chr1:76193804..76195477-chr1:76197916..76200074,2	K562	blood:
4	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:
5	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
6	chr1:76187324..76189486-chr1:76251695..76253876,2	MCF-7	breast:
7	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:
8	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
9	chr1:76197560..76200556-chr1:76208948..76211290,2	K562	blood:
10	chr1:76178176..76179962-chr1:76184780..76186701,2	K562	blood:
11	chr1:19971033..19971998-chr1:76190390..76190915,2	Hela-S3	cervix:
12	chr1:76208288..76210222-chr1:76210745..76212663,2	K562	blood:
13	chr1:75934636..75936669-chr1:76193127..76195034,2	K562	blood:
14	chr1:76189532..76190105-chr1:76251441..76252104,2	MCF-7	breast:
15	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
16	chr1:76189545..76190479-chr8:125486401..125487035,2	Hela-S3	cervix:
17	chr1:76183392..76187625-chr1:76187644..76191545,4	MCF-7	breast:
18	chr1:76196771..76198499-chr1:76258126..76260501,2	K562	blood:
19	chr1:76171538..76176296-chr1:76182594..76187669,7	K562	blood:
20	chr1:76203557..76205358-chr1:76211524..76214025,2	K562	blood:
21	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
22	chr1:76190052..76193339-chr1:76196508..76198872,3	K562	blood:
23	chr1:76189917..76190733-chr20:34329839..34330374,2	Hela-S3	cervix:
24	chr1:76190900..76193069-chr1:76204976..76207416,2	K562	blood:
25	chr1:76168335..76170790-chr1:76173153..76175492,2	K562	blood:
26	chr1:76177430..76180048-chr1:76194109..76196652,2	K562	blood:
27	chr1:76182869..76185714-chr1:76255250..76257463,2	K562	blood:
28	chr1:76178176..76179962-chr1:76184780..76186701,2	K562	blood:
29	chr1:76186929..76188557-chr16:30758246..30760309,2	K562	blood:
30	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
31	chr1:76181725..76184610-chr1:76261923..76263669,2	K562	blood:
32	chr1:76160863..76164413-chr1:76188361..76190736,3	K562	blood:
33	chr1:76196771..76202637-chr1:76258126..76262356,7	K562	blood:
34	chr1:76181545..76183225-chr1:76260845..76263669,2	K562	blood:
35	chr1:76204248..76206118-chr1:76227096..76229498,2	K562	blood:
36	chr1:76171640..76173855-chr1:76188377..76192246,4	K562	blood:
37	chr1:76204780..76207479-chr1:76214544..76217459,2	K562	blood:
38	chr1:76192256..76194565-chr1:76250720..76252773,2	MCF-7	breast:
39	chr1:76189426..76191146-chr1:76192491..76194847,2	MCF-7	breast:
40	chr1:76205678..76212783-chr1:76212896..76217702,9	K562	blood:
41	chr1:76189700..76190212-chr9:130565796..130566746,2	Hela-S3	cervix:
42	chr1:76189536..76192375-chr1:76202654..76205815,3	K562	blood:
43	chr1:76197028..76199654-chr1:76253368..76256114,2	K562	blood:
44	chr1:76204080..76208296-chr1:76250097..76254787,8	K562	blood:
45	chr1:76197492..76199222-chr1:76216070..76218442,2	K562	blood:
46	chr1:76171478..76174682-chr1:76188816..76193676,7	K562	blood:
47	chr1:76168335..76170790-chr1:76173153..76175492,2	K562	blood:
48	chr1:76204201..76206191-chr1:76251025..76253822,3	K562	blood:
49	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
50	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A5-4	chr1:76174710-76174855	NONHSAT003984
2	lnc-SLC44A5-4	chr1:76189627-76189696	ENSG00000178193.5
3	lnc-SLC44A5-4	chr1:76188705-76188721	NONHSAT003984
4	lnc-SLC44A5-4	chr1:76189353-76189473	XLOC_000872
5	lnc-SLC44A5-4	chr1:76189353-76189473	ENSG00000178193.5
6	lnc-SLC44A5-4	chr1:76186034-76186090	ENSG00000178193.5
7	lnc-SLC44A5-4	chr1:76175700-76176308	XLOC_000872
8	lnc-SLC44A5-4	chr1:76175688-76176245	ENSG00000178193.5
9	lnc-SLC44A5-4	chr1:76186034-76186090	NONHSAT003984
10	lnc-SLC44A5-4	chr1:76186030-76186090	XLOC_000872
11	lnc-SLC44A5-4	chr1:76189627-76189696	XLOC_000872

No data

Variant related genes	Relation type
ACADM	TF binding region
ENSG00000178193	TF binding region
ACADM	CpG island
ENSG00000178193	CpG island
ENSG00000206620	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000181227	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000057468	chromatin interactions
ENSG00000137955	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000136877	chromatin interactions
ENSG00000207241	chromatin interactions
ENSG00000201487	chromatin interactions
ENSG00000158747	chromatin interactions
ENSG00000178193	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000117054	chromatin interactions

Extended variants
information (count: 1482 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1482 , 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	rs4949874	chr1:76161889-76161890	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs185167397	chr1:76161907-76161908	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532143998	chr1:76161917-76161918	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142420754	chr1:76161933-76161934	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569084561	chr1:76161940-76161941	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs6686290	chr1:76161947-76161948	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368186643	chr1:76161969-76161970	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs115233377	chr1:76161973-76161974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188882920	chr1:76161996-76161997	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181329993	chr1:76162001-76162002	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558657031	chr1:76162043-76162044	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61073907	chr1:76162067-76162068	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538389173	chr1:76162079-76162080	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11811276	chr1:76162109-76162110	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557291315	chr1:76162212-76162213	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185459565	chr1:76162245-76162246	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12138889	chr1:76162255-76162256	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554117062	chr1:76162269-76162270	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113914752	chr1:76162270-76162271	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545911947	chr1:76162303-76162304	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188171316	chr1:76162308-76162309	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576628705	chr1:76162309-76162310	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs180719604	chr1:76162318-76162319	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187273648	chr1:76162332-76162333	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147506891	chr1:76162346-76162347	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547904412	chr1:76162348-76162349	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370093394	chr1:76162363-76162364	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560211862	chr1:76162372-76162373	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111784080	chr1:76162377-76162378	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61797333	chr1:76162407-76162408	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570559255	chr1:76162408-76162409	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75074881	chr1:76162421-76162422	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201857640	chr1:76162428-76162429	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34005741	chr1:76162430-76162431	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs78675792	chr1:76162431-76162432	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369253138	chr1:76162444-76162445	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs181999377	chr1:76162453-76162454	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186216695	chr1:76162465-76162466	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190591613	chr1:76162493-76162494	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554012506	chr1:76162536-76162537	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs542427589	chr1:76162560-76162561	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112478224	chr1:76162575-76162576	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182829510	chr1:76162605-76162606	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7535991	chr1:76162624-76162625	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs539399563	chr1:76162635-76162636	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557875779	chr1:76162671-76162672	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186990007	chr1:76162688-76162689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377467980	chr1:76162690-76162691	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544111535	chr1:76162747-76162748	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562679892	chr1:76162751-76162752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1180 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76171400-76171600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:76172400-76173600	Enhancers	Hela-S3	cervix
3	chr1:76172800-76173400	Enhancers	K562	blood
4	chr1:76173600-76174800	Weak transcription	Hela-S3	cervix
5	chr1:76174800-76175800	Enhancers	Hela-S3	cervix
6	chr1:76176000-76176200	Enhancers	Left Ventricle	heart
7	chr1:76176400-76177000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:76176400-76178200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:76176600-76177000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:76176600-76177800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:76176800-76177000	Enhancers	Left Ventricle	heart
12	chr1:76176800-76177200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:76177000-76178600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:76177200-76177400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:76177400-76177800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:76177400-76177800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:76177400-76178800	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:76177600-76179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:76177800-76178000	Enhancers	Adipose Nuclei	Adipose
20	chr1:76177800-76178600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:76178400-76178800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:76178600-76178800	Enhancers	Adipose Nuclei	Adipose
23	chr1:76178600-76178800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:76178600-76178800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:76184000-76184200	Enhancers	Esophagus	oesophagus
26	chr1:76184000-76184200	Enhancers	HepG2	liver
27	chr1:76184200-76184400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:76184200-76184400	Enhancers	K562	blood
29	chr1:76184200-76189000	Weak transcription	Esophagus	oesophagus
30	chr1:76184400-76185600	Weak transcription	K562	blood
31	chr1:76184400-76186000	Weak transcription	HepG2	liver
32	chr1:76184600-76187200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:76185200-76186200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:76185200-76186200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:76185200-76186200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:76185400-76186200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:76185600-76186200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:76185600-76186600	Enhancers	Fetal Intestine Small	intestine
39	chr1:76185600-76187200	Enhancers	K562	blood
40	chr1:76185600-76187600	Enhancers	Fetal Intestine Large	intestine
41	chr1:76185800-76186000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:76185800-76186000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:76185800-76186000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:76185800-76186800	Enhancers	Primary T cells from cord blood	blood
45	chr1:76185800-76187200	Enhancers	Fetal Thymus	thymus
46	chr1:76186000-76187400	Enhancers	HepG2	liver
47	chr1:76186000-76188600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:76186000-76189600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:76186200-76186800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:76186200-76187400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links