Variant report

Variant	rs7551531
Chromosome Location	chr1:171214880-171214881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:171214577-171214962	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:171214599-171214946	T-47D	breast:	n/a	n/a
3	TAF1	chr1:171214678-171214917	PFSK-1	brain:	n/a	n/a
4	SMC3	chr1:171214632-171214966	K562	blood:	n/a	n/a
5	CTCF	chr1:171214676-171214907	GM10266	blood:	n/a	n/a
6	CTCF	chr1:171214590-171215017	GM12878	blood:	n/a	n/a
7	ZNF143	chr1:171214618-171214980	GM12878	blood:	n/a	chr1:171214927-171214936
8	CTCF	chr1:171214740-171214890	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr1:171214629-171214948	Gliobla	brain:	n/a	n/a
10	CTCF	chr1:171214651-171214948	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:171214612-171215020	IMR90	lung:	n/a	n/a
12	CTCF	chr1:171214673-171214907	HepG2	liver:	n/a	n/a
13	MAFK	chr1:171214877-171215134	HepG2	liver:	n/a	n/a
14	CTCF	chr1:171214499-171215060	HCT-116	colon:	n/a	n/a
15	CTCF	chr1:171214610-171215029	A549	lung:	n/a	n/a
16	CTCF	chr1:171214740-171214890	HL-60	blood:	n/a	n/a
17	CTCF	chr1:171214661-171215002	K562	blood:	n/a	n/a
18	CTCF	chr1:171214740-171214890	BJ	skin:	n/a	n/a
19	CTCF	chr1:171214740-171214890	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr1:171214615-171214967	K562	blood:	n/a	n/a
21	CTCF	chr1:171214664-171214937	K562	blood:	n/a	n/a
22	CTCF	chr1:171214740-171214890	HPF	lung:	n/a	n/a
23	RAD21	chr1:171214537-171214966	MCF-7	breast:	n/a	n/a
24	RAD21	chr1:171214690-171214924	HepG2	liver:	n/a	n/a
25	CTCF	chr1:171214695-171214888	GM12892	blood:	n/a	n/a
26	RAD21	chr1:171214606-171214964	GM12878	blood:	n/a	n/a
27	RAD21	chr1:171214633-171215006	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:171214687-171214897	GM19239	blood:	n/a	n/a
29	CTCF	chr1:171214661-171214912	LNCaP	prostate:	n/a	n/a
30	RAD21	chr1:171214556-171215038	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:171214269-171215216	SK-N-SH	brain:	n/a	n/a
32	RAD21	chr1:171214618-171214974	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr1:171214740-171214890	GM12864	blood:	n/a	n/a
34	CTCF	chr1:171214661-171214914	ProgFib	skin:	n/a	n/a
35	CTCF	chr1:171214660-171214916	Kidney_OC	kidney:	n/a	n/a
36	RAD21	chr1:171214690-171214917	GM12878	blood:	n/a	n/a
37	CTCF	chr1:171214595-171214951	H1-hESC	embryonic stem cell:	n/a	n/a
38	SMC3	chr1:171214591-171214983	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr1:171214740-171214890	GM12874	blood:	n/a	n/a
40	CTCF	chr1:171214677-171214929	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr1:171214526-171215016	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:171214740-171214890	RPTEC	kidney:	n/a	n/a
43	CTCF	chr1:171214740-171214890	BE2_C	brain:	n/a	n/a
44	CTCF	chr1:171214653-171214941	GM12878	blood:	n/a	n/a
45	RAD21	chr1:171214509-171215116	HCT-116	colon:	n/a	n/a
46	CTCF	chr1:171214740-171214890	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr1:171214669-171214936	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr1:171214630-171214952	IMR90	lung:	n/a	n/a
49	RAD21	chr1:171214529-171215130	HCT-116	colon:	n/a	n/a
50	NRF1	chr1:171214639-171214940	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171214140..171215314-chr1:171282380..171283602,18	MCF-7	breast:
2	chr1:171214240..171215269-chr1:171282376..171283601,7	MCF-7	breast:

No data

Variant related genes	Relation type
FMO1	TF binding region
ENSG00000076258	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10158051	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912619	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912661	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3174837	0.94[ASN][1000 genomes]
rs35434145	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916269	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425286	0.87[ASN][1000 genomes]
rs7512785	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7515157	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7516374	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542248	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545153	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7551531	FMO2	cis	Artery Tibial	GTEx
rs7551531	FMO3	cis	cerebellum	SCAN
rs7551531	FMO2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171200800-171220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:171211400-171218400	Weak transcription	Fetal Lung	lung
3	chr1:171214800-171216600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:171214800-171216800	Weak transcription	Aorta	Aorta

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