Variant report

Variant	rs1447569
Chromosome Location	chr11:45668114-45668115
allele	A/C
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	YY1	chr11:45667974-45668488	NT2-D1	testis:	n/a	n/a
2	USF1	chr11:45667974-45668603	K562	blood:	n/a	chr11:45668322-45668333
3	YY1	chr11:45668103-45668440	HCT-116	colon:	n/a	n/a
4	JUND	chr11:45668051-45668447	K562	blood:	n/a	n/a
5	CHD2	chr11:45668101-45668492	K562	blood:	n/a	n/a
6	USF1	chr11:45668058-45668552	A549	lung:	n/a	chr11:45668322-45668333
7	SIX5	chr11:45668086-45668477	K562	blood:	n/a	n/a
8	YY1	chr11:45667927-45668595	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr11:45667972-45668678	SK-N-SH	brain:	n/a	chr11:45668322-45668333
10	USF1	chr11:45668011-45668665	HCT-116	colon:	n/a	chr11:45668322-45668333
11	YY1	chr11:45668088-45668448	K562	blood:	n/a	n/a
12	USF1	chr11:45668036-45668638	ECC-1	luminal epithelium:	n/a	chr11:45668322-45668333
13	SP1	chr11:45668029-45668645	HCT-116	colon:	n/a	n/a
14	YY1	chr11:45668084-45668471	K562	blood:	n/a	n/a
15	SIX5	chr11:45668030-45668536	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr11:45668064-45668484	SK-N-SH_RA	brain:	n/a	n/a
17	YY1	chr11:45668068-45668469	A549	lung:	n/a	n/a
18	YY1	chr11:45668099-45668442	GM12878	blood:	n/a	n/a
19	FOS	chr11:45667976-45668460	MCF10A-Er-Src	breast:	n/a	chr11:45668049-45668060
20	SIX5	chr11:45668067-45668391	GM12878	blood:	n/a	n/a
21	USF1	chr11:45668029-45668658	H1-hESC	embryonic stem cell:	n/a	chr11:45668322-45668333
22	FOS	chr11:45667946-45668414	MCF10A-Er-Src	breast:	n/a	chr11:45668049-45668060
23	SP1	chr11:45668109-45668466	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIX5	chr11:45668113-45668519	GM12878	blood:	n/a	n/a
25	FOS	chr11:45668048-45668489	MCF10A-Er-Src	breast:	n/a	chr11:45668049-45668060
26	ZNF143	chr11:45668094-45668511	K562	blood:	n/a	n/a
27	FOS	chr11:45667953-45668468	MCF10A-Er-Src	breast:	n/a	chr11:45668049-45668060
28	USF1	chr11:45667932-45668810	HCT-116	colon:	n/a	chr11:45668322-45668333
29	USF1	chr11:45668091-45668562	A549	lung:	n/a	chr11:45668322-45668333
30	ATF3	chr11:45668072-45668501	H1-hESC	embryonic stem cell:	n/a	n/a
31	HCFC1	chr11:45667931-45668556	Hela-S3	cervix:	n/a	n/a
32	FOS	chr11:45667771-45668277	HUVEC	blood vessel:	n/a	chr11:45668049-45668060
33	YY1	chr11:45668011-45668508	SK-N-SH	brain:	n/a	n/a
34	ZNF143	chr11:45668076-45668501	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr11:45668096-45668547	ECC-1	luminal epithelium:	n/a	n/a
36	YY1	chr11:45668050-45668387	GM12892	blood:	n/a	n/a
37	HCFC1	chr11:45668084-45668571	K562	blood:	n/a	n/a
38	USF1	chr11:45668061-45668587	ECC-1	luminal epithelium:	n/a	chr11:45668322-45668333
39	YY1	chr11:45667853-45668680	SK-N-SH	brain:	n/a	n/a
40	USF1	chr11:45668088-45668506	A549	lung:	n/a	chr11:45668322-45668333
41	YY1	chr11:45668083-45668549	ECC-1	luminal epithelium:	n/a	n/a
42	USF1	chr11:45668072-45668574	SK-N-SH_RA	brain:	n/a	chr11:45668322-45668333
43	USF1	chr11:45668074-45668700	H1-hESC	embryonic stem cell:	n/a	chr11:45668322-45668333
44	SIX5	chr11:45668111-45668483	H1-hESC	embryonic stem cell:	n/a	n/a
45	USF1	chr11:45668038-45668597	SK-N-SH	brain:	n/a	chr11:45668322-45668333
46	YY1	chr11:45668067-45668501	GM12878	blood:	n/a	n/a
47	SP1	chr11:45668037-45668671	HCT-116	colon:	n/a	n/a
48	YY1	chr11:45668103-45668522	SK-N-SH_RA	brain:	n/a	n/a
49	YY1	chr11:45668089-45668458	K562	blood:	n/a	n/a
50	FOS	chr11:45668001-45668514	K562	blood:	n/a	chr11:45668049-45668060

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45659181..45661642-chr11:45665618..45668117,2	K562	blood:

Variant related genes	Relation type
ENSG00000255091	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10769157	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038597	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038608	0.96[CEU][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1348963	0.93[ASN][1000 genomes]
rs1348964	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348965	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34264431	0.82[EUR][1000 genomes]
rs36106594	0.87[EUR][1000 genomes]
rs4148897	1.00[CEU][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4148900	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148904	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45486999	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45604433	0.84[EUR][1000 genomes]
rs4755332	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756008	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121696	0.87[EUR][1000 genomes]
rs895729	0.92[JPT][hapmap]
rs895734	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1447569	CHST1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45659200-45669400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45663600-45671200	Weak transcription	Spleen	Spleen
3	chr11:45665600-45671000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:45665600-45674400	Weak transcription	HMEC	breast
5	chr11:45665600-45680000	Weak transcription	Gastric	stomach
6	chr11:45665800-45669400	Weak transcription	Left Ventricle	heart
7	chr11:45665800-45670600	Weak transcription	Fetal Brain Female	brain
8	chr11:45665800-45670600	Weak transcription	Right Ventricle	heart
9	chr11:45665800-45671200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:45665800-45671800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:45666200-45671000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:45667400-45669800	Enhancers	HUVEC	blood vessel
13	chr11:45667800-45668200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr11:45667800-45670600	Weak transcription	Aorta	Aorta
15	chr11:45668000-45668200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:45668000-45668200	Flanking Active TSS	NHEK	skin

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