Variant report

Variant	nsv973075
Chromosome Location	chr12:56500110-56507731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:244)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:56501244-56501279	K562	blood:	n/a	n/a
2	CCNT2	chr12:56501045-56501457	K562	blood:	n/a	chr12:56501110-56501119
3	CEBPD	chr12:56501044-56501455	K562	blood:	n/a	n/a
4	CTCF	chr12:56506446-56506495	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:56506433-56506493	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:56506360-56506510	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr12:56506446-56506485	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:56506441-56506488	A549	lung:	n/a	n/a
9	CTCF	chr12:56501321-56501362	LNCaP	prostate:	n/a	n/a
10	EP300	chr12:56501048-56501452	K562	blood:	n/a	n/a
11	FOS	chr12:56504365-56504691	MCF10A-Er-Src	breast:	n/a	chr12:56504506-56504518 chr12:56504508-56504516
12	FOS	chr12:56504415-56504691	MCF10A-Er-Src	breast:	n/a	chr12:56504506-56504518 chr12:56504508-56504516
13	FOS	chr12:56504375-56504721	MCF10A-Er-Src	breast:	n/a	chr12:56504506-56504518 chr12:56504508-56504516
14	FOS	chr12:56504382-56504677	MCF10A-Er-Src	breast:	n/a	chr12:56504506-56504518 chr12:56504508-56504516
15	GATA1	chr12:56501068-56501383	PBDEFetal	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
16	GATA1	chr12:56500914-56501612	PBDE	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
17	GATA1	chr12:56500899-56501632	K562	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
18	GATA2	chr12:56501009-56501426	K562	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
19	HCFC1	chr12:56497450-56500158	Hela-S3	cervix:	n/a	n/a
20	HMGN3	chr12:56501214-56501245	K562	blood:	n/a	n/a
21	IRF1	chr12:56501048-56501300	K562	blood:	n/a	chr12:56501202-56501211
22	JUN	chr12:56497256-56500270	K562	blood:	n/a	n/a
23	KAP1	chr12:56507371-56507625	K562	blood:	n/a	n/a
24	MAFF	chr12:56507080-56507087	HepG2	liver:	n/a	n/a
25	MAFF	chr12:56499964-56500157	K562	blood:	n/a	n/a
26	MAFK	chr12:56499936-56500142	IMR90	lung:	n/a	chr12:56500025-56500036 chr12:56500020-56500035 chr12:56500024-56500035 chr12:56500024-56500035 chr12:56500020-56500036 chr12:56500025-56500036 chr12:56500023-56500037
27	MAFK	chr12:56499955-56500154	HepG2	liver:	n/a	chr12:56500025-56500036 chr12:56500020-56500035 chr12:56500024-56500035 chr12:56500024-56500035 chr12:56500020-56500036 chr12:56500025-56500036 chr12:56500023-56500037
28	MAFK	chr12:56499905-56500113	HepG2	liver:	n/a	chr12:56500025-56500036 chr12:56500020-56500035 chr12:56500024-56500035 chr12:56500024-56500035 chr12:56500020-56500036 chr12:56500025-56500036 chr12:56500023-56500037
29	MAX	chr12:56507348-56507652	K562	blood:	n/a	n/a
30	MXI1	chr12:56497451-56500334	IMR90	lung:	n/a	n/a
31	MXI1	chr12:56496990-56500161	SK-N-SH	brain:	n/a	n/a
32	MYC	chr12:56504389-56504777	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr12:56504352-56504741	MCF10A-Er-Src	breast:	n/a	n/a
34	PML	chr12:56500998-56501454	K562	blood:	n/a	n/a
35	POLR2A	chr12:56507254-56508335	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:56504559-56504707	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:56504897-56505139	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:56502075-56502106	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:56501267-56501315	K562	blood:	n/a	n/a
40	POLR2A	chr12:56499993-56500546	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:56500978-56501116	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:56507360-56507377	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:56505787-56506375	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:56505100-56505170	K562	blood:	n/a	n/a
45	POLR2A	chr12:56507192-56507198	K562	blood:	n/a	n/a
46	POLR2A	chr12:56500000-56500166	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:56503359-56503797	GM12892	blood:	n/a	n/a
48	POLR2A	chr12:56501860-56501861	K562	blood:	n/a	n/a
49	POLR2A	chr12:56504853-56505261	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr12:56505839-56506145	Hela-S3	cervix:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56504448-56504498	BJ	skin:	n/a
2	chr12:56504570-56504620	PrEC	prostate:	n/a
3	chr12:56504448-56504498	HCT-116	colon:	n/a
4	chr12:56504570-56504620	HL-60	blood:	n/a
5	chr12:56504570-56504620	AG04450	lung:	fetal
6	chr12:56507491-56507541	Jurkat	blood:	n/a
7	chr12:56501426-56501476	BE2_C	brain:	n/a
8	chr12:56504448-56504498	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:56504448-56504498	ovcar-3	ovarian:	n/a
10	chr12:56501426-56501476	MCF10A-Er-Src	breast:	n/a
11	chr12:56504570-56504620	SAEC	small airway:	n/a
12	chr12:56501426-56501476	HEK293	kidney:	embryo
13	chr12:56504570-56504620	GM19239	blood:	n/a
14	chr12:56504448-56504498	SKMC	muscle:	n/a
15	chr12:56504448-56504498	SK-N-SH	brain:	n/a
16	chr12:56507491-56507541	ProgFib	skin:	n/a
17	chr12:56507491-56507541	SAEC	small airway:	n/a
18	chr12:56504570-56504620	A549	lung:	n/a
19	chr12:56504448-56504498	AG04450	lung:	fetal
20	chr12:56507491-56507541	NT2-D1	testis:	n/a
21	chr12:56504570-56504620	GM12891	blood:	n/a
22	chr12:56504570-56504620	HRCEpiC	kidney:	n/a
23	chr12:56504448-56504498	HCF	heart:	n/a
24	chr12:56507491-56507541	ovcar-3	ovarian:	n/a
25	chr12:56501426-56501476	AoSMC	blood vessel:	n/a
26	chr12:56507491-56507541	PrEC	prostate:	n/a
27	chr12:56504448-56504498	HUVEC	blood vessel:	n/a
28	chr12:56504570-56504620	GM12892	blood:	n/a
29	chr12:56504570-56504620	RPTEC	kidney:	n/a
30	chr12:56507491-56507541	LNCaP	prostate:	n/a
31	chr12:56504570-56504620	HEK293	kidney:	embryo
32	chr12:56501426-56501476	IMR90	lung:	fetal
33	chr12:56507491-56507541	HUVEC	blood vessel:	n/a
34	chr12:56507491-56507541	HRE	kidney:	n/a
35	chr12:56507491-56507541	SK-N-SH	brain:	n/a
36	chr12:56504448-56504498	AoSMC	blood vessel:	n/a
37	chr12:56504448-56504498	MCF10A-Er-Src	breast:	n/a
38	chr12:56507491-56507541	HepG2	liver:	n/a
39	chr12:56507491-56507541	HIPEpiC	eye:	n/a
40	chr12:56504448-56504498	RPTEC	kidney:	n/a
41	chr12:56501426-56501476	ProgFib	skin:	n/a
42	chr12:56504570-56504620	ECC-1	luminal epithelium:	n/a
43	chr12:56504448-56504498	HAEpiC	amniotic membrane:	n/a
44	chr12:56504448-56504498	HMEC	breast:	n/a
45	chr12:56507491-56507541	AG10803	skin:	n/a
46	chr12:56507491-56507541	HEK293	kidney:	embryo
47	chr12:56504570-56504620	HepG2	liver:	n/a
48	chr12:56504570-56504620	HIPEpiC	eye:	n/a
49	chr12:56507491-56507541	BJ	skin:	n/a
50	chr12:56501426-56501476	HL-60	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56497940..56500843-chr12:56693833..56696028,2	K562	blood:
2	chr12:56433331..56443603-chr12:56506173..56514581,35	K562	blood:
3	chr12:56434006..56443603-chr12:56507645..56514884,44	K562	blood:
4	chr12:56435618..56442072-chr12:56498381..56502676,10	K562	blood:
5	chr12:56497759..56500713-chr12:56568434..56571351,2	MCF-7	breast:
6	chr12:56471198..56482935-chr12:56506922..56516262,73	MCF-7	breast:
7	chr12:56433777..56443620-chr12:56502225..56514736,38	MCF-7	breast:
8	chr12:56471291..56475668-chr12:56497220..56500908,8	K562	blood:
9	chr12:56471261..56483436-chr12:56494778..56506435,58	MCF-7	breast:
10	chr12:56435808..56437500-chr12:56500706..56503595,2	MCF-7	breast:
11	chr12:56434034..56442629-chr12:56495467..56501430,16	MCF-7	breast:
12	chr12:56497691..56500664-chr12:56545558..56547668,3	MCF-7	breast:
13	chr12:56470948..56480058-chr12:56507665..56513741,17	K562	blood:
14	chr12:56500254..56503028-chr12:56550656..56552219,2	MCF-7	breast:
15	chr12:56135636..56138112-chr12:56501103..56503509,2	K562	blood:
16	chr12:56434544..56443137-chr12:56494029..56505252,21	K562	blood:
17	chr12:56431889..56443161-chr12:56494616..56500426,22	MCF-7	breast:
18	chr12:56433908..56446518-chr12:56506026..56517165,55	MCF-7	breast:
19	chr12:56135568..56140230-chr12:56496911..56501047,5	K562	blood:
20	chr12:56499013..56501029-chr12:56614482..56616399,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCC2-5	chr12:56507425-56507689	ENSG00000257553.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PA2G4	hsa-let-7b-5p	chr12:56506960-56506982
2	PA2G4	hsa-miR-16-5p	chr12:56506681-56506702

Variant related genes	Relation type
PA2G4	TF binding region
ZC3H10	TF binding region
ENSG00000257553	TF binding region
RPL41	TF binding region
ESYT1	TF binding region
PA2G4	CpG island
ZC3H10	CpG island
ENSG00000257553	CpG island
RPL41	CpG island
ESYT1	CpG island
ENSG00000092841	chromatin interactions
ENSG00000196465	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000135414	chromatin interactions
ENSG00000257809	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000257303	chromatin interactions
ENSG00000181852	chromatin interactions
ENSG00000062485	chromatin interactions
ENSG00000139579	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000139613	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34397072	chr12:56500155-56500156	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs567994361	chr12:56500181-56500182	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs183936023	chr12:56500185-56500186	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs540951532	chr12:56500186-56500187	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs531353857	chr12:56500196-56500197	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs557111921	chr12:56500209-56500210	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs78883552	chr12:56500260-56500261	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs575484319	chr12:56500279-56500280	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs113117665	chr12:56500280-56500281	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs73125228	chr12:56500307-56500308	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112596013	chr12:56500313-56500314	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs77224376	chr12:56500319-56500320	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs573085230	chr12:56500338-56500339	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs376891199	chr12:56500351-56500352	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs71459343	chr12:56500407-56500408	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs150178932	chr12:56500453-56500454	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs34728522	chr12:56500502-56500503	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs71074902	chr12:56500503-56500504	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs398019698	chr12:56500514-56500515	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs77932546	chr12:56500515-56500516	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs371507945	chr12:56500531-56500532	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs559675925	chr12:56500532-56500533	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs530071737	chr12:56500551-56500552	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs541885927	chr12:56500553-56500554	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs76619562	chr12:56500582-56500583	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs78341715	chr12:56500630-56500631	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs188316890	chr12:56500668-56500669	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs148811324	chr12:56500776-56500777	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs565003154	chr12:56500834-56500835	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs114268672	chr12:56500872-56500873	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs373836843	chr12:56500892-56500893	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs112076846	chr12:56500946-56500947	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs367629867	chr12:56500963-56500964	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs78028795	chr12:56501016-56501017	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs145539960	chr12:56501078-56501079	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs75096354	chr12:56501128-56501129	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs535468565	chr12:56501130-56501131	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs557050944	chr12:56501138-56501139	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs568983683	chr12:56501212-56501213	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs372667299	chr12:56501281-56501282	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs115072063	chr12:56501290-56501291	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs368713215	chr12:56501329-56501330	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs372939818	chr12:56501427-56501428	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs368902723	chr12:56501434-56501435	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs148881463	chr12:56501537-56501538	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs145320721	chr12:56501580-56501581	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs570800512	chr12:56501584-56501585	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs553979583	chr12:56501641-56501642	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs570646514	chr12:56501642-56501643	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs574625425	chr12:56501649-56501650	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	17982442	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56497200-56500200	Active TSS	Psoas Muscle	Psoas
2	chr12:56497600-56500400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56498400-56500200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:56498400-56501400	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr12:56498600-56501000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:56498800-56500200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:56499000-56500200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:56499000-56500200	Flanking Active TSS	Fetal Brain Female	brain
9	chr12:56499200-56500200	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr12:56499200-56500200	Flanking Active TSS	HUVEC	blood vessel
11	chr12:56499200-56500200	Flanking Active TSS	Osteobl	bone
12	chr12:56499200-56500400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr12:56499200-56500400	Enhancers	Spleen	Spleen
14	chr12:56499200-56500400	Transcr. at gene 5' and 3'	A549	lung
15	chr12:56499200-56500400	Flanking Active TSS	HSMM	muscle
16	chr12:56499200-56501400	Transcr. at gene 5' and 3'	K562	blood
17	chr12:56499200-56509600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:56499400-56500200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:56499400-56500200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:56499400-56500200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:56499400-56500200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:56499400-56500200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:56499400-56500200	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:56499400-56500200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
25	chr12:56499400-56500200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:56499400-56500200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:56499400-56500200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
28	chr12:56499400-56500200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:56499400-56500200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:56499400-56500200	Enhancers	Small Intestine	intestine
31	chr12:56499400-56500400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr12:56499400-56500400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
33	chr12:56499400-56500400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:56499400-56500600	Transcr. at gene 5' and 3'	Hela-S3	cervix
35	chr12:56499400-56500800	Transcr. at gene 5' and 3'	NHEK	skin
36	chr12:56499400-56501000	Weak transcription	Aorta	Aorta
37	chr12:56499400-56501000	Weak transcription	Gastric	stomach
38	chr12:56499400-56501000	Weak transcription	Pancreas	Pancrea
39	chr12:56499600-56500200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
40	chr12:56499600-56500200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:56499600-56500200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr12:56499600-56500200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr12:56499600-56500200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:56499600-56500200	Enhancers	Brain Angular Gyrus	brain
45	chr12:56499600-56500200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:56499600-56500200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:56499600-56500200	Enhancers	Colonic Mucosa	Colon
48	chr12:56499600-56500200	Enhancers	Ovary	ovary
49	chr12:56499600-56500200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr12:56499600-56500200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links