Variant report

Variant	rs28970005
Chromosome Location	chr2:234577728-234577729
allele	A/G
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	SP1	chr2:234577083-234577850	A549	lung:	n/a	n/a
2	MAX	chr2:234577299-234577979	A549	lung:	n/a	n/a
3	EP300	chr2:234576988-234578001	A549	lung:	n/a	n/a
4	CEBPB	chr2:234577262-234577872	A549	lung:	n/a	n/a
5	E2F6	chr2:234577389-234578002	A549	lung:	n/a	chr2:234577700-234577707 chr2:234577700-234577707 chr2:234577700-234577707
6	NR3C1	chr2:234577198-234577729	A549	lung:	n/a	n/a
7	BCL3	chr2:234577236-234577886	A549	lung:	n/a	n/a
8	GATA3	chr2:234577228-234578011	A549	lung:	n/a	n/a
9	REST	chr2:234577200-234577836	A549	lung:	n/a	n/a
10	FOSL2	chr2:234577120-234577830	A549	lung:	n/a	n/a
11	CEBPB	chr2:234577256-234577747	A549	lung:	n/a	n/a
12	EP300	chr2:234577123-234577876	A549	lung:	n/a	n/a
13	TCF12	chr2:234577042-234578004	A549	lung:	n/a	n/a
14	SP1	chr2:234577066-234577914	A549	lung:	n/a	n/a
15	NR3C1	chr2:234577180-234577766	A549	lung:	n/a	n/a
16	MAX	chr2:234577255-234577979	A549	lung:	n/a	n/a
17	GATA3	chr2:234577258-234577787	A549	lung:	n/a	n/a

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A9	TF binding region

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10182818	1.00[EUR][1000 genomes]
rs13389374	1.00[EUR][1000 genomes]
rs13390054	1.00[EUR][1000 genomes]
rs13395852	1.00[EUR][1000 genomes]
rs13398912	1.00[EUR][1000 genomes]
rs13401703	1.00[EUR][1000 genomes]
rs13403667	1.00[EUR][1000 genomes]
rs13406202	1.00[EUR][1000 genomes]
rs28898571	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28898573	1.00[EUR][1000 genomes]
rs28898598	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28899474	1.00[EUR][1000 genomes]
rs28899479	1.00[EUR][1000 genomes]
rs28900378	1.00[EUR][1000 genomes]
rs28900380	1.00[EUR][1000 genomes]
rs28900396	1.00[EUR][1000 genomes]
rs28968515	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28969703	1.00[EUR][1000 genomes]
rs28969712	1.00[EUR][1000 genomes]
rs28969974	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28970006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28970014	1.00[EUR][1000 genomes]
rs28970015	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34652311	1.00[EUR][1000 genomes]
rs45498701	1.00[EUR][1000 genomes]
rs45505392	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45548336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45568235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121108	1.00[EUR][1000 genomes]
rs73123128	1.00[EUR][1000 genomes]
rs73123133	1.00[EUR][1000 genomes]
rs73123137	1.00[EUR][1000 genomes]
rs73123148	1.00[EUR][1000 genomes]
rs73123150	1.00[EUR][1000 genomes]
rs9287602	1.00[EUR][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:234577400-234578400	Enhancers	A549	lung
4	chr2:234577400-234579800	Enhancers	Liver	Liver

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