Variant report

Variant	esv1793290
Chromosome Location	chr15:43479328-43487742
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	CTCF	chr15:43479860-43480010	HA-sp	spinal cord:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
2	CTCF	chr15:43479860-43480010	AG09309	skin:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
3	CTCF	chr15:43479820-43479970	HAc	cerebellar:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
4	CTCF	chr15:43479834-43480026	A549	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
5	CTCF	chr15:43479834-43480061	GM12878	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
6	CTCF	chr15:43479860-43480010	GM12872	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
7	CTCF	chr15:43479880-43480030	HBMEC	blood vessel:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
8	CTCF	chr15:43479880-43480030	HUVEC	blood vessel:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
9	CTCF	chr15:43479880-43480030	AoAF	blood vessel:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
10	CTCF	chr15:43479702-43480056	A549	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
11	CTCF	chr15:43479820-43479970	HFF-Myc	foreskin:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
12	CTCF	chr15:43479880-43480030	GM06990	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
13	CTCF	chr15:43479880-43480030	HL-60	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
14	CTCF	chr15:43479821-43480048	A549	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
15	CTCF	chr15:43479880-43480030	GM12864	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
16	CTCF	chr15:43479815-43480076	Medullo	brain:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
17	CTCF	chr15:43479820-43479970	HCT-116	colon:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
18	CTCF	chr15:43479860-43480010	SAEC	small airway:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
19	CTCF	chr15:43479980-43480130	A549	lung:	n/a	n/a
20	CTCF	chr15:43479800-43479950	HEK293	kidney:	n/a	n/a
21	CTCF	chr15:43479880-43480030	AG09309	skin:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
22	CTCF	chr15:43479860-43480010	AG04449	skin:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
23	CTCF	chr15:43479860-43480010	RPTEC	kidney:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
24	CTCF	chr15:43479840-43479990	AG04450	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
25	CTCF	chr15:43479920-43480070	WI-38	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
26	CTCF	chr15:43479860-43480010	HPF	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
27	CTCF	chr15:43479860-43480010	BE2_C	brain:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
28	CTCF	chr15:43479880-43480030	HEEpiC	esophagus:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
29	CTCF	chr15:43479200-43479350	AG09319	gingival:	n/a	n/a
30	CTCF	chr15:43479900-43480050	GM12874	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
31	CTCF	chr15:43479835-43480064	K562	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
32	CTCF	chr15:43479900-43480050	GM12869	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
33	CTCF	chr15:43479920-43480070	MCF-7	breast:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
34	CTCF	chr15:43479753-43480299	IMR90	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
35	CTCF	chr15:43479880-43480030	HRE	kidney:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
36	CTCF	chr15:43479880-43480030	BJ	skin:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
37	CTCF	chr15:43479880-43480030	Hela-S3	cervix:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
38	CTCF	chr15:43479880-43480030	HCPEpiC	choroid plexus:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
39	CTCF	chr15:43479840-43479990	GM12878	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
40	CTCF	chr15:43479840-43479990	GM12875	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
41	CTCF	chr15:43479860-43480010	GM12868	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
42	CTCF	chr15:43479840-43479990	HVMF	connective:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
43	CTCF	chr15:43479840-43479990	SK-N-SH_RA	brain:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
44	CTCF	chr15:43479840-43479990	GM12865	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
45	CTCF	chr15:43479821-43480042	GM13977	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
46	CTCF	chr15:43479900-43480050	BJ	skin:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
47	CTCF	chr15:43479820-43479970	NHDF-neo	bronchial:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
48	CTCF	chr15:43479833-43480038	GM10248	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
49	CTCF	chr15:43479860-43480010	GM12873	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
50	CTCF	chr15:43479762-43480109	T-47D	breast:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:43481741-43481791	Hepatocyte	liver:	n/a
2	chr15:43481741-43481791	HUVEC	blood vessel:	n/a
3	chr15:43483750-43483800	IMR90	lung:	fetal
4	chr15:43483750-43483800	AG04449	skin:	fetal
5	chr15:43483750-43483800	HL-60	blood:	n/a
6	chr15:43483750-43483800	PFSK-1	brain:	n/a
7	chr15:43483750-43483800	SK-N-MC	brain:	n/a
8	chr15:43481741-43481791	MCF-7	breast:	n/a
9	chr15:43481741-43481791	SAEC	small airway:	n/a
10	chr15:43483750-43483800	ECC-1	luminal epithelium:	n/a
11	chr15:43483750-43483800	HAEpiC	amniotic membrane:	n/a
12	chr15:43483750-43483800	NHDF-neo	bronchial:	n/a
13	chr15:43481741-43481791	AG09309	skin:	n/a
14	chr15:43481741-43481791	GM12892	blood:	n/a
15	chr15:43483750-43483800	GM06990	blood:	n/a
16	chr15:43483750-43483800	PANC-1	pancreas:	n/a
17	chr15:43481741-43481791	Jurkat	blood:	n/a
18	chr15:43483750-43483800	Hepatocyte	liver:	n/a
19	chr15:43481741-43481791	SK-N-SH	brain:	n/a
20	chr15:43483750-43483800	HEK293	kidney:	embryo
21	chr15:43481741-43481791	AG04449	skin:	fetal
22	chr15:43483750-43483800	RPTEC	kidney:	n/a
23	chr15:43483750-43483800	SKMC	muscle:	n/a
24	chr15:43483750-43483800	BJ	skin:	n/a
25	chr15:43483750-43483800	ProgFib	skin:	n/a
26	chr15:43481741-43481791	HCT-116	colon:	n/a
27	chr15:43481741-43481791	CMK	blood:	n/a
28	chr15:43481741-43481791	PANC-1	pancreas:	n/a
29	chr15:43483750-43483800	HRE	kidney:	n/a
30	chr15:43483750-43483800	NB4	blood:	n/a
31	chr15:43483750-43483800	AG10803	skin:	n/a
32	chr15:43481741-43481791	HAEpiC	amniotic membrane:	n/a
33	chr15:43483750-43483800	HCT-116	colon:	n/a
34	chr15:43481741-43481791	AG09319	gingival:	n/a
35	chr15:43483750-43483800	HUVEC	blood vessel:	n/a
36	chr15:43481741-43481791	U87	brain:	n/a
37	chr15:43481741-43481791	IMR90	lung:	fetal
38	chr15:43483750-43483800	Hela-S3	cervix:	n/a
39	chr15:43481741-43481791	PFSK-1	brain:	n/a
40	chr15:43481741-43481791	NH-A	brain:	n/a
41	chr15:43481741-43481791	AG04450	lung:	fetal
42	chr15:43483750-43483800	HRPEpiC	eye:	n/a
43	chr15:43481741-43481791	BE2_C	brain:	n/a
44	chr15:43483750-43483800	H1-hESC	embryonic stem cell:	embryo
45	chr15:43481741-43481791	HCM	heart:	n/a
46	chr15:43481741-43481791	AoSMC	blood vessel:	n/a
47	chr15:43481741-43481791	GM19239	blood:	n/a
48	chr15:43483750-43483800	T-47D	breast:	n/a
49	chr15:43481741-43481791	GM12891	blood:	n/a
50	chr15:43481741-43481791	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43476179..43479249-chr15:43481666..43485060,6	K562	blood:
2	chr15:43478456..43479959-chr15:43502893..43504984,2	K562	blood:
3	chr15:43477046..43479733-chr15:43513135..43515650,2	MCF-7	breast:
4	chr15:43212538..43214244-chr15:43477789..43479955,2	K562	blood:
5	chr15:43478839..43481750-chr15:43486043..43488157,2	K562	blood:
6	chr15:43480701..43484189-chr15:43499859..43502784,3	K562	blood:
7	chr15:43476285..43479868-chr15:43558571..43560739,3	K562	blood:
8	chr15:43484282..43486298-chr15:43511798..43513539,2	K562	blood:
9	chr15:43471322..43474436-chr15:43477554..43479456,3	K562	blood:
10	chr15:43479840..43480426-chr15:43577468..43578377,2	K562	blood:
11	chr15:43479061..43481710-chr15:43621878..43623729,2	K562	blood:
12	chr15:43478839..43481750-chr15:43486043..43488157,2	K562	blood:
13	chr15:43368519..43371458-chr15:43478469..43480102,2	K562	blood:
14	chr15:43476228..43478017-chr15:43486633..43489547,2	K562	blood:
15	chr15:43486542..43488730-chr15:43494665..43496385,2	K562	blood:
16	chr15:43413837..43416869-chr15:43476770..43480897,4	K562	blood:
17	chr15:43414543..43416437-chr15:43476770..43479731,2	K562	blood:
18	chr15:43477582..43480144-chr15:43497635..43499944,2	K562	blood:
19	chr15:43478113..43480240-chr15:43513375..43516202,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TGM5-1	chr15:43481389-43481812	ucscGeneNc_uc001zvd_2

No.	miRNA target gene	miRNA name	Chromosome Location
1	CCNDBP1	hsa-miR-9-5p	chr15:43487162-43487181
2	CCNDBP1	hsa-miR-26b-5p	chr15:43486631-43486651
3	CCNDBP1	hsa-miR-9-5p	chr15:43487174-43487181
4	CCNDBP1	hsa-miR-9-5p	chr15:43487727-43487748

Variant related genes	Relation type
ENSG00000261687	TF binding region
CCNDBP1	TF binding region
ENSG00000261687	CpG island
CCNDBP1	CpG island
ENSG00000137842	chromatin interactions
ENSG00000166946	chromatin interactions
ENSG00000168806	chromatin interactions
ENSG00000166947	chromatin interactions
ENSG00000261687	chromatin interactions
ENSG00000261679	chromatin interactions
ENSG00000128881	chromatin interactions
ENSG00000168803	chromatin interactions
ENSG00000104055	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538218	chr15:43479328-43479329	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149525304	chr15:43479333-43479334	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs191376640	chr15:43479362-43479363	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs2947019	chr15:43479363-43479364	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs375422832	chr15:43479368-43479369	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs546372484	chr15:43479394-43479395	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs563208070	chr15:43479415-43479416	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs531903414	chr15:43479457-43479458	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs556187476	chr15:43479495-43479496	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs112262051	chr15:43479504-43479505	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs561504441	chr15:43479519-43479520	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs527419202	chr15:43479525-43479526	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs547104387	chr15:43479592-43479593	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs113177808	chr15:43479593-43479594	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs570181931	chr15:43479602-43479603	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs184565375	chr15:43479607-43479608	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs549667693	chr15:43479625-43479626	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs190316494	chr15:43479656-43479657	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs569973218	chr15:43479817-43479818	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs565830288	chr15:43479854-43479855	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs193278331	chr15:43479865-43479866	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs372653894	chr15:43479993-43479994	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs554841527	chr15:43480086-43480087	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs568380670	chr15:43480137-43480138	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs144130279	chr15:43480197-43480198	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs375501621	chr15:43480198-43480199	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs79756290	chr15:43480220-43480221	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs569847067	chr15:43480227-43480228	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs4924710	chr15:43480264-43480265	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs185147017	chr15:43480280-43480281	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs143361429	chr15:43480291-43480292	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs190397764	chr15:43480313-43480314	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs181118310	chr15:43480345-43480346	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs558773826	chr15:43480370-43480371	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs542141544	chr15:43480438-43480439	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs562371012	chr15:43480490-43480491	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs577958515	chr15:43480514-43480515	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs77268082	chr15:43480531-43480532	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs571731041	chr15:43480540-43480541	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs540574984	chr15:43480558-43480559	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs75500685	chr15:43480587-43480588	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs532852738	chr15:43480673-43480674	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs559469345	chr15:43480794-43480795	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs549994197	chr15:43480798-43480799	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs185709372	chr15:43480823-43480824	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs553740944	chr15:43480826-43480827	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs376943638	chr15:43480883-43480884	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs529053385	chr15:43480922-43480923	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs549032987	chr15:43480970-43480971	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs146582867	chr15:43481000-43481001	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43477200-43479600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr15:43478200-43479400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr15:43478600-43479400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:43478600-43480600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr15:43478600-43481400	Weak transcription	Ovary	ovary
6	chr15:43478600-43481600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:43478600-43481600	Weak transcription	Esophagus	oesophagus
8	chr15:43478600-43481600	Weak transcription	Fetal Lung	lung
9	chr15:43478600-43481600	Weak transcription	Gastric	stomach
10	chr15:43478600-43481600	Weak transcription	Lung	lung
11	chr15:43478600-43481600	Weak transcription	Spleen	Spleen
12	chr15:43478600-43482200	Weak transcription	Pancreas	Pancrea
13	chr15:43478600-43489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:43478600-43489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:43478800-43479400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:43478800-43479400	Enhancers	Adipose Nuclei	Adipose
18	chr15:43478800-43479400	Enhancers	Liver	Liver
19	chr15:43478800-43479400	Enhancers	Brain Substantia Nigra	brain
20	chr15:43478800-43479400	Enhancers	Colon Smooth Muscle	Colon
21	chr15:43478800-43479400	Genic enhancers	Rectal Smooth Muscle	rectum
22	chr15:43478800-43479600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr15:43478800-43479600	Flanking Active TSS	GM12878-XiMat	blood
24	chr15:43478800-43479800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr15:43478800-43479800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:43478800-43479800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:43478800-43479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:43478800-43480000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:43478800-43480200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr15:43478800-43480400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr15:43478800-43480400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr15:43478800-43480400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:43478800-43480400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr15:43478800-43480400	Weak transcription	Small Intestine	intestine
35	chr15:43478800-43480400	Weak transcription	A549	lung
36	chr15:43478800-43480600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:43478800-43480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:43478800-43480800	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr15:43478800-43480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:43478800-43481200	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:43478800-43481200	Weak transcription	Thymus	Thymus
42	chr15:43478800-43481400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:43478800-43481400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:43478800-43481400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:43478800-43481400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:43478800-43481400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:43478800-43481400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:43478800-43481400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:43478800-43481400	Weak transcription	Fetal Thymus	thymus
50	chr15:43478800-43481400	Weak transcription	HSMM	muscle

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