Variant report

Variant	rs12043556
Chromosome Location	chr1:153407572-153407573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153401556..153403433-chr1:153405617..153407706,2	K562	blood:
2	chr1:153407055..153408752-chr1:153409136..153411597,2	MCF-7	breast:
3	chr1:153404704..153408499-chr1:153408737..153412962,4	K562	blood:

Variant related genes	Relation type
ENSG00000197364	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10127752	0.84[ASN][1000 genomes]
rs10888560	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11205297	0.92[CHB][hapmap];0.93[ASN][1000 genomes]
rs12022550	0.89[CHB][hapmap];0.90[YRI][hapmap]
rs12025638	0.94[YRI][hapmap]
rs12034788	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12036701	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs12043280	0.92[CHB][hapmap]
rs12044034	0.86[AFR][1000 genomes]
rs12044491	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12045252	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12047203	0.84[AFR][1000 genomes]
rs12047494	0.82[CHB][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs12217109	1.00[CHB][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16835308	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16835332	0.82[CHB][hapmap];0.93[YRI][hapmap]
rs2986209	0.82[CHB][hapmap]
rs3006414	0.82[CHB][hapmap]
rs3006423	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs3014814	0.82[CHB][hapmap]
rs3014818	0.82[CHB][hapmap]
rs3014822	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs3014823	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs41265152	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4507965	0.84[ASN][1000 genomes]
rs4845348	0.82[CHB][hapmap]
rs55668683	0.91[ASN][1000 genomes]
rs55703007	0.82[AFR][1000 genomes]
rs56009204	0.81[ASN][1000 genomes]
rs72708746	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 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	chr1:153404000-153413800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:153407200-153407600	Flanking Active TSS	K562	blood
3	chr1:153407200-153408000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:153407200-153408000	Enhancers	Placenta	Placenta

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