Variant report

Variant	rs12071715
Chromosome Location	chr1:153068996-153068997
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	GATA2	chr1:153068697-153069128	K562	blood:	n/a	n/a
2	GATA1	chr1:153068392-153069584	PBDE	blood:	n/a	chr1:153069330-153069340 chr1:153069182-153069192

Variant related genes	Relation type
SPRR2E	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11205244	1.00[EUR][1000 genomes]
rs11205245	1.00[EUR][1000 genomes]
rs11804878	1.00[EUR][1000 genomes]
rs11807440	1.00[EUR][1000 genomes]
rs12071483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076915	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12076956	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1500936	1.00[EUR][1000 genomes]
rs1611767	1.00[EUR][1000 genomes]
rs16834990	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835107	1.00[EUR][1000 genomes]
rs17882124	1.00[EUR][1000 genomes]
rs17884523	1.00[EUR][1000 genomes]
rs4110996	1.00[EUR][1000 genomes]
rs55900893	1.00[EUR][1000 genomes]
rs55955219	1.00[EUR][1000 genomes]
rs58013954	1.00[EUR][1000 genomes]
rs58512485	1.00[EUR][1000 genomes]
rs60921957	1.00[EUR][1000 genomes]
rs61555689	1.00[EUR][1000 genomes]
rs6693273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73010435	1.00[EUR][1000 genomes]
rs73010446	1.00[EUR][1000 genomes]
rs73012488	1.00[EUR][1000 genomes]
rs73014328	1.00[EUR][1000 genomes]
rs73014334	1.00[EUR][1000 genomes]
rs74133619	1.00[EUR][1000 genomes]
rs74136421	1.00[EUR][1000 genomes]
rs7513811	1.00[EUR][1000 genomes]
rs7522548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv464017	chr1:153033406-153099345	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv547920	chr1:153033406-153099345	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv946395	chr1:153042430-153069958	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3425721	chr1:153057079-153076073	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153067400-153070200	Weak transcription	NHEK	skin
2	chr1:153067400-153072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:153068200-153069600	Enhancers	K562	blood
4	chr1:153068400-153069200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:153068400-153069200	Enhancers	Hela-S3	cervix

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