Variant report

Variant	nsv1007750
Chromosome Location	chr1:46471293-46552564
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	ARID3A	chr1:46519550-46519606	K562	blood:	n/a	n/a
2	ATF1	chr1:46536147-46536354	K562	blood:	n/a	n/a
3	ATF1	chr1:46505164-46505492	K562	blood:	n/a	n/a
4	ATF1	chr1:46519414-46519727	K562	blood:	n/a	n/a
5	ATF1	chr1:46533863-46533941	K562	blood:	n/a	n/a
6	ATF2	chr1:46528254-46528628	GM12878	blood:	n/a	n/a
7	ATF2	chr1:46502647-46503150	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:46502610-46503204	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:46509023-46509767	GM12878	blood:	n/a	n/a
10	ATF2	chr1:46502605-46503140	GM12878	blood:	n/a	n/a
11	ATF3	chr1:46531076-46531262	K562	blood:	n/a	n/a
12	BATF	chr1:46528328-46528613	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:46507190-46507470	GM12878	blood:	n/a	n/a
14	BCL3	chr1:46502496-46503246	GM12878	blood:	n/a	n/a
15	BCLAF1	chr1:46509013-46509729	GM12878	blood:	n/a	n/a
16	BCLAF1	chr1:46502610-46503225	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:46528442-46528785	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:46531280-46531322	K562	blood:	n/a	n/a
19	BHLHE40	chr1:46519408-46519782	K562	blood:	n/a	n/a
20	BHLHE40	chr1:46502638-46503047	K562	blood:	n/a	n/a
21	BHLHE40	chr1:46509247-46509758	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:46502750-46503067	GM12878	blood:	n/a	n/a
23	CEBPB	chr1:46505219-46505613	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr1:46543254-46543702	ECC-1	luminal epithelium:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
25	CEBPB	chr1:46543297-46543732	IMR90	lung:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
26	CEBPB	chr1:46543312-46543705	ECC-1	luminal epithelium:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
27	CEBPB	chr1:46543211-46543804	HCT-116	colon:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
28	CEBPB	chr1:46543303-46543676	A549	lung:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
29	CEBPB	chr1:46543301-46543680	HepG2	liver:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
30	CEBPB	chr1:46550735-46550988	IMR90	lung:	n/a	n/a
31	CEBPB	chr1:46528998-46529114	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:46543264-46543732	K562	blood:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
33	CEBPB	chr1:46543271-46543704	K562	blood:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
34	CEBPB	chr1:46543301-46543673	H1-hESC	embryonic stem cell:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
35	CEBPB	chr1:46502789-46503045	GM12878	blood:	n/a	n/a
36	CEBPB	chr1:46543267-46543734	MCF-7	breast:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
37	CEBPB	chr1:46485082-46485419	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr1:46505149-46505656	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:46543295-46543806	A549	lung:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
40	CEBPB	chr1:46509461-46509798	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr1:46529034-46529052	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:46543274-46543675	Hela-S3	cervix:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
43	CEBPB	chr1:46543339-46543550	K562	blood:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
44	CEBPB	chr1:46543295-46543605	MCF-7	breast:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
45	CEBPB	chr1:46543284-46543719	A549	lung:	n/a	chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543480-46543493 chr1:46543482-46543491 chr1:46543481-46543492 chr1:46543479-46543496
46	CEBPD	chr1:46502659-46503643	K562	blood:	n/a	n/a
47	CEBPD	chr1:46502874-46503135	HepG2	liver:	n/a	n/a
48	CHD1	chr1:46528483-46528831	GM12878	blood:	n/a	n/a
49	CHD2	chr1:46502684-46502963	HepG2	liver:	n/a	n/a
50	CHD2	chr1:46502697-46503152	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46485352-46485402	NH-A	brain:	n/a
2	chr1:46506065-46506115	GM19239	blood:	n/a
3	chr1:46485352-46485402	A549	lung:	n/a
4	chr1:46502608-46502658	SKMC	muscle:	n/a
5	chr1:46509395-46509445	H1-hESC	embryonic stem cell:	embryo
6	chr1:46485352-46485402	HNPCEpiC	eye:	n/a
7	chr1:46506065-46506115	Hepatocyte	liver:	n/a
8	chr1:46502608-46502658	Caco-2	colon:	n/a
9	chr1:46485352-46485402	HRCEpiC	kidney:	n/a
10	chr1:46506065-46506115	CMK	blood:	n/a
11	chr1:46502608-46502658	AoSMC	blood vessel:	n/a
12	chr1:46506065-46506115	GM12878	blood:	n/a
13	chr1:46485352-46485402	GM19239	blood:	n/a
14	chr1:46509395-46509445	HCPEpiC	choroid plexus:	n/a
15	chr1:46502608-46502658	Hela-S3	cervix:	n/a
16	chr1:46506065-46506115	NT2-D1	testis:	n/a
17	chr1:46506065-46506115	NH-A	brain:	n/a
18	chr1:46506065-46506115	K562	blood:	n/a
19	chr1:46502608-46502658	AG09309	skin:	n/a
20	chr1:46506065-46506115	PANC-1	pancreas:	n/a
21	chr1:46509395-46509445	HNPCEpiC	eye:	n/a
22	chr1:46485352-46485402	HCPEpiC	choroid plexus:	n/a
23	chr1:46485352-46485402	HMEC	breast:	n/a
24	chr1:46502608-46502658	ProgFib	skin:	n/a
25	chr1:46502608-46502658	Hepatocyte	liver:	n/a
26	chr1:46509395-46509445	HEK293	kidney:	embryo
27	chr1:46506065-46506115	IMR90	lung:	fetal
28	chr1:46502608-46502658	SAEC	small airway:	n/a
29	chr1:46509395-46509445	U87	brain:	n/a
30	chr1:46506065-46506115	NHBE	bronchial:	n/a
31	chr1:46509395-46509445	SK-N-MC	brain:	n/a
32	chr1:46485352-46485402	HL-60	blood:	n/a
33	chr1:46485352-46485402	H1-hESC	embryonic stem cell:	embryo
34	chr1:46502608-46502658	HEK293	kidney:	embryo
35	chr1:46509395-46509445	HCM	heart:	n/a
36	chr1:46502608-46502658	GM12891	blood:	n/a
37	chr1:46502608-46502658	AG10803	skin:	n/a
38	chr1:46509395-46509445	RPTEC	kidney:	n/a
39	chr1:46502608-46502658	PANC-1	pancreas:	n/a
40	chr1:46485352-46485402	BJ	skin:	n/a
41	chr1:46485352-46485402	ECC-1	luminal epithelium:	n/a
42	chr1:46506065-46506115	AG09319	gingival:	n/a
43	chr1:46502608-46502658	AG04449	skin:	fetal
44	chr1:46485352-46485402	IMR90	lung:	fetal
45	chr1:46509395-46509445	GM12878	blood:	n/a
46	chr1:46485352-46485402	SAEC	small airway:	n/a
47	chr1:46502608-46502658	H1-hESC	embryonic stem cell:	embryo
48	chr1:46509395-46509445	Hepatocyte	liver:	n/a
49	chr1:46502608-46502658	SK-N-SH	brain:	n/a
50	chr1:46506065-46506115	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46539092..46540687-chr1:46544801..46546416,2	K562	blood:
2	chr1:46484546..46487489-chr1:46603817..46605793,2	K562	blood:
3	chr1:46509116..46511141-chr1:46622794..46625574,2	K562	blood:
4	chr1:46465466..46467155-chr1:46470978..46473043,2	K562	blood:
5	chr1:46536821..46539157-chr1:46549967..46552900,2	K562	blood:
6	chr1:46506001..46508149-chr1:46592642..46594282,2	MCF-7	breast:
7	chr1:46529831..46532658-chr1:46533875..46536108,2	K562	blood:
8	chr1:46502035..46504255-chr1:46662505..46664043,2	K562	blood:
9	chr1:46502978..46504881-chr1:46688059..46689994,2	K562	blood:
10	chr1:46470355..46473674-chr1:46477475..46480255,3	K562	blood:
11	chr1:46499846..46501821-chr1:46501905..46505233,3	K562	blood:
12	chr1:46501155..46503229-chr1:46711979..46714694,2	K562	blood:
13	chr1:46509862..46512015-chr1:46517130..46519215,2	K562	blood:
14	chr1:46539092..46540687-chr1:46544801..46546416,2	K562	blood:
15	chr1:46486510..46488331-chr1:46488785..46491782,2	MCF-7	breast:
16	chr1:46520913..46522899-chr1:46526918..46529248,2	K562	blood:
17	chr1:46495760..46499404-chr1:46501029..46505549,6	K562	blood:
18	chr1:46500927..46503041-chr1:46594569..46596961,2	MCF-7	breast:
19	chr1:46461020..46463343-chr1:46476267..46478373,2	K562	blood:
20	chr1:46500166..46508245-chr1:46642169..46649663,17	K562	blood:
21	chr1:46490032..46491762-chr1:46646589..46649571,2	K562	blood:
22	chr1:46534157..46536161-chr1:46560640..46563031,2	K562	blood:
23	chr1:46516907..46519834-chr1:46662765..46666013,3	K562	blood:
24	chr1:46488776..46491318-chr1:46492009..46494441,2	K562	blood:
25	chr1:46494989..46496996-chr1:46515212..46517430,2	K562	blood:
26	chr1:46501684..46503933-chr1:46638611..46640285,2	K562	blood:
27	chr1:46506118..46508735-chr1:46643577..46646194,3	K562	blood:
28	chr1:46486434..46490068-chr1:46491695..46494942,4	K562	blood:
29	chr1:46494989..46496996-chr1:46515212..46517430,2	K562	blood:
30	chr1:46501329..46503162-chr1:46604855..46606915,2	K562	blood:
31	chr1:46502630..46503505-chr1:46596675..46597385,2	Hela-S3	cervix:
32	chr1:46498806..46500907-chr1:46597285..46600123,2	MCF-7	breast:
33	chr1:46502151..46503328-chr1:46688941..46690179,5	K562	blood:
34	chr1:46506900..46509372-chr1:46596626..46598832,4	MCF-7	breast:
35	chr1:46509486..46511609-chr1:46512647..46514463,2	K562	blood:
36	chr1:46502035..46506029-chr1:46661019..46664447,3	K562	blood:
37	chr1:46504778..46506949-chr1:46647471..46649234,2	MCF-7	breast:
38	chr1:46502496..46503477-chr1:46663439..46664734,4	K562	blood:
39	chr1:46535525..46537726-chr1:46616991..46618804,2	K562	blood:
40	chr1:46466152..46468526-chr1:46469622..46471885,2	MCF-7	breast:
41	chr1:46548907..46550667-chr1:46558589..46560319,2	MCF-7	breast:
42	chr1:46501257..46504423-chr1:46594631..46599309,4	MCF-7	breast:
43	chr1:46495760..46499404-chr1:46501029..46505549,6	K562	blood:
44	chr1:46509486..46511609-chr1:46512647..46514463,2	K562	blood:
45	chr1:46467498..46470215-chr1:46486949..46488855,2	K562	blood:
46	chr1:46531892..46533650-chr1:46593425..46595448,2	MCF-7	breast:
47	chr1:46502476..46504695-chr1:46767882..46770571,2	K562	blood:
48	chr1:46502754..46504889-chr1:46644727..46646775,2	MCF-7	breast:
49	chr1:46501344..46502975-chr1:46637425..46639494,2	MCF-7	breast:
50	chr1:46502105..46504084-chr1:46528170..46530129,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POMGNT1-7	chr1:46515722-46516517	predAs_engstrom06_CA430007_1
2	lnc-MAST2-1	chr1:46512490-46512847	ENSG00000226957.1
3	lnc-MAST2-1	chr1:46513750-46514040	ENSG00000226957.1
4	lnc-POMGNT1-6	chr1:46536976-46537439	expReg_chr1_7431_-
5	lnc-MAST2-4	chr1:46546234-46546493	expReg_chr1_8134_+
6	lnc-POMGNT1-5	chr1:46538644-46539209	expReg_chr1_7434_-

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PIK3R3	hsa-miR-346	chr1:46507155-46507148

Variant related genes	Relation type
MAST2	TF binding region
PIK3R3	TF binding region
ENSG00000226957	TF binding region
MAST2	CpG island
PIK3R3	CpG island
ENSG00000226957	CpG island
ENSG00000226957	chromatin interactions
ENSG00000132128	chromatin interactions
ENSG00000250719	chromatin interactions
ENSG00000117472	chromatin interactions
ENSG00000117461	chromatin interactions
ENSG00000086015	chromatin interactions
ENSG00000227857	chromatin interactions
ENSG00000085999	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000173660	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000085998	chromatin interactions

Extended variants
information (count: 2907 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2907 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536922908	chr1:46471332-46471333	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555665090	chr1:46471333-46471334	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35764739	chr1:46471353-46471354	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573940382	chr1:46471417-46471418	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142998997	chr1:46471431-46471432	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4133224	chr1:46471463-46471464	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552961533	chr1:46471471-46471472	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577683721	chr1:46471507-46471508	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12403530	chr1:46471515-46471516	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563521975	chr1:46471520-46471521	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200880366	chr1:46471560-46471561	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192735153	chr1:46471585-46471586	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80162938	chr1:46471645-46471646	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575830795	chr1:46471684-46471685	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542943016	chr1:46471685-46471686	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150496944	chr1:46471711-46471712	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377613235	chr1:46471727-46471728	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139468118	chr1:46471808-46471809	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74648484	chr1:46471815-46471816	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373299356	chr1:46471893-46471894	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143235749	chr1:46471999-46472000	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368837813	chr1:46472006-46472007	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533031530	chr1:46472012-46472013	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551528434	chr1:46472028-46472029	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372615184	chr1:46472045-46472046	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185021358	chr1:46472064-46472065	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141311842	chr1:46472067-46472068	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569848531	chr1:46472131-46472132	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113995555	chr1:46472144-46472145	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6429592	chr1:46472153-46472154	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs189897332	chr1:46472174-46472175	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547141803	chr1:46472185-46472186	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193200203	chr1:46472201-46472202	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184759935	chr1:46472203-46472204	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552922854	chr1:46472214-46472215	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115315598	chr1:46472224-46472225	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532682118	chr1:46472253-46472254	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562569490	chr1:46472271-46472272	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76502334	chr1:46472283-46472284	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78944846	chr1:46472284-46472285	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538733574	chr1:46472341-46472342	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117710472	chr1:46472367-46472368	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12049588	chr1:46472422-46472423	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs568941255	chr1:46472496-46472497	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543160898	chr1:46472502-46472503	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374238091	chr1:46472515-46472516	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12143581	chr1:46472536-46472537	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569979536	chr1:46472550-46472551	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140304085	chr1:46472555-46472556	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144090136	chr1:46472560-46472561	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Neuroblastoma	21899760	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:2079 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46438200-46471400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:46445600-46472000	Weak transcription	A549	lung
3	chr1:46445600-46475600	Weak transcription	Stomach Mucosa	stomach
4	chr1:46448400-46472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:46453600-46472000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:46455000-46471600	Weak transcription	Lung	lung
7	chr1:46457000-46472800	Weak transcription	Small Intestine	intestine
8	chr1:46458600-46471400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:46460400-46471800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:46461000-46474000	Weak transcription	NH-A	brain
11	chr1:46461400-46488000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:46461600-46471600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:46461800-46471800	Weak transcription	Ovary	ovary
14	chr1:46461800-46474000	Weak transcription	Thymus	Thymus
15	chr1:46462000-46472000	Weak transcription	HUVEC	blood vessel
16	chr1:46462200-46471800	Weak transcription	NHDF-Ad	bronchial
17	chr1:46462400-46471400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:46463000-46473000	Weak transcription	GM12878-XiMat	blood
19	chr1:46463200-46471800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:46463200-46473200	Weak transcription	Right Atrium	heart
21	chr1:46463600-46471400	Weak transcription	Osteobl	bone
22	chr1:46463600-46471800	Weak transcription	Adipose Nuclei	Adipose
23	chr1:46463600-46471800	Weak transcription	Gastric	stomach
24	chr1:46463800-46471600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:46463800-46473600	Weak transcription	NHEK	skin
26	chr1:46464000-46472000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:46464000-46472800	Weak transcription	Psoas Muscle	Psoas
28	chr1:46464200-46471800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:46464200-46472800	Weak transcription	Brain Substantia Nigra	brain
30	chr1:46464200-46472800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:46464200-46474000	Weak transcription	Fetal Thymus	thymus
32	chr1:46464200-46474600	Weak transcription	Fetal Brain Male	brain
33	chr1:46464600-46471400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:46464600-46475000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:46464600-46478800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:46464600-46479200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:46464800-46471800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:46464800-46472400	Weak transcription	Pancreas	Pancrea
39	chr1:46464800-46474000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:46464800-46474000	Weak transcription	Spleen	Spleen
41	chr1:46464800-46479400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:46465000-46479200	Strong transcription	Fetal Stomach	stomach
43	chr1:46465200-46471600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:46465200-46472000	Weak transcription	Hela-S3	cervix
45	chr1:46465200-46476000	Weak transcription	NHLF	lung
46	chr1:46465400-46472000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:46465800-46471800	Weak transcription	K562	blood
48	chr1:46466200-46471400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:46466200-46471600	Weak transcription	Brain Germinal Matrix	brain
50	chr1:46466400-46471600	Weak transcription	Duodenum Mucosa	Duodenum

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