Variant report

Variant	rs10888560
Chromosome Location	chr1:153406561-153406562
allele	A/G
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	chr1:153333002..153335698-chr1:153404883..153407063,2	MCF-7	breast:
3	chr1:153402848..153404645-chr1:153405080..153406621,2	MCF-7	breast:
4	chr1:153404704..153408499-chr1:153408737..153412962,4	K562	blood:

Variant related genes	Relation type
ENSG00000197364	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10127752	1.00[ASN][1000 genomes]
rs11205297	0.86[CHD][hapmap];0.90[GIH][hapmap]
rs12022550	0.88[CHB][hapmap];0.82[YRI][hapmap]
rs12025638	0.82[CHD][hapmap];0.81[YRI][hapmap]
rs12034788	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12036701	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12043280	0.83[CHD][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap]
rs12043556	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]
rs12044491	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12045252	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12047494	0.80[CHB][hapmap]
rs12217109	0.81[AMR][1000 genomes]
rs16835308	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835332	0.80[CHB][hapmap];0.82[CHD][hapmap];0.81[YRI][hapmap]
rs2986209	0.80[CHB][hapmap]
rs3006412	0.90[CHB][hapmap]
rs3006413	0.95[ASN][1000 genomes]
rs3006414	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.88[ASN][1000 genomes]
rs3006416	0.95[ASN][1000 genomes]
rs3006422	0.95[ASN][1000 genomes]
rs3006423	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3014813	0.95[ASN][1000 genomes]
rs3014814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3014815	0.95[ASN][1000 genomes]
rs3014816	0.95[ASN][1000 genomes]
rs3014817	0.95[ASN][1000 genomes]
rs3014818	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs3014822	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3014823	1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3014848	0.84[CHB][hapmap]
rs41265152	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4507965	1.00[ASN][1000 genomes]
rs4845348	1.00[CHB][hapmap]
rs72708746	0.90[AMR][1000 genomes];0.83[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	chr1:153403200-153407200	Enhancers	K562	blood
2	chr1:153404000-153413800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153405200-153406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:153406000-153407200	Weak transcription	Placenta	Placenta

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