Variant report

Variant	rs72811084
Chromosome Location	chr2:99459452-99459453
allele	A/T
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	FOXA1	chr2:99459160-99459515	T-47D	breast:	n/a	n/a
2	FOS	chr2:99459406-99459498	MCF10A-Er-Src	breast:	n/a	n/a
3	FOSL2	chr2:99459133-99459660	A549	lung:	n/a	n/a
4	YY1	chr2:99459364-99459608	A549	lung:	n/a	n/a
5	FOXA1	chr2:99459259-99459562	T-47D	breast:	n/a	n/a
6	FOXA2	chr2:99459174-99459639	A549	lung:	n/a	n/a
7	MAFK	chr2:99459300-99459505	HepG2	liver:	n/a	chr2:99459407-99459422
8	FOS	chr2:99459316-99459511	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:99459287-99459520	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr2:99459083-99459652	A549	lung:	n/a	n/a
11	FOSL2	chr2:99459161-99459607	MCF-7	breast:	n/a	n/a
12	MAFK	chr2:99459355-99459513	HepG2	liver:	n/a	chr2:99459407-99459422
13	FOSL2	chr2:99459215-99459575	A549	lung:	n/a	n/a
14	FOXA2	chr2:99459260-99459481	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99449234..99452452-chr2:99458195..99461216,3	MCF-7	breast:
2	chr2:99459110..99461074-chr2:99484535..99486648,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-46P	TF binding region
ENSG00000196872	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10153924	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11123753	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12233010	1.00[AFR][1000 genomes]
rs12233187	1.00[AFR][1000 genomes]
rs12233197	1.00[AFR][1000 genomes]
rs1399512	1.00[ASN][1000 genomes]
rs1517679	1.00[ASN][1000 genomes]
rs1517680	1.00[ASN][1000 genomes]
rs1574516	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022034	0.82[EUR][1000 genomes]
rs4850884	1.00[ASN][1000 genomes]
rs4850886	1.00[ASN][1000 genomes]
rs4850887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851149	1.00[ASN][1000 genomes]
rs4851152	1.00[ASN][1000 genomes]
rs4851155	1.00[ASN][1000 genomes]
rs4851156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66484268	0.81[EUR][1000 genomes]
rs67008211	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67983743	0.81[EUR][1000 genomes]
rs72811067	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811092	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813009	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813012	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813013	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813016	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813021	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:99450000-99468400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:99450800-99462800	Weak transcription	Gastric	stomach
5	chr2:99453200-99460600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:99453200-99473200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:99456200-99473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:99459000-99460000	Enhancers	A549	lung
9	chr2:99459400-99459600	Enhancers	Right Atrium	heart
10	chr2:99459400-99459800	Enhancers	HepG2	liver

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