Variant report

Variant	rs12044659
Chromosome Location	chr1:224038096-224038097
allele	A/C
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	KAP1	chr1:224037658-224038207	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224037312..224039331-chr1:224622037..224624359,2	K562	blood:
2	chr1:224031495..224036851-chr1:224037356..224045519,10	MCF-7	breast:

Variant related genes	Relation type
TP53BP2	TF binding region
ENSG00000143514	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs12022914	0.98[ASN][1000 genomes]
rs12022920	0.98[ASN][1000 genomes]
rs12024059	0.98[ASN][1000 genomes]
rs12025911	0.88[ASN][1000 genomes]
rs12026548	0.93[ASN][1000 genomes]
rs12027762	0.88[ASN][1000 genomes]
rs12028843	0.98[ASN][1000 genomes]
rs12029400	0.85[ASN][1000 genomes]
rs12031089	0.85[ASN][1000 genomes]
rs12031127	0.85[ASN][1000 genomes]
rs12031539	0.85[ASN][1000 genomes]
rs12031859	0.98[ASN][1000 genomes]
rs12032205	0.85[ASN][1000 genomes]
rs12032254	0.85[ASN][1000 genomes]
rs12032570	0.85[ASN][1000 genomes]
rs12033388	0.85[ASN][1000 genomes]
rs12033399	0.85[ASN][1000 genomes]
rs12033405	0.85[ASN][1000 genomes]
rs12034120	1.00[ASN][1000 genomes]
rs12034364	0.85[ASN][1000 genomes]
rs12034534	0.85[ASN][1000 genomes]
rs12034737	0.85[ASN][1000 genomes]
rs12034914	1.00[ASN][1000 genomes]
rs12035506	0.90[ASN][1000 genomes]
rs12036390	0.85[ASN][1000 genomes]
rs12036636	0.85[ASN][1000 genomes]
rs12036693	0.85[ASN][1000 genomes]
rs12036717	1.00[ASN][1000 genomes]
rs12038665	0.98[ASN][1000 genomes]
rs12038706	1.00[ASN][1000 genomes]
rs12039721	1.00[ASN][1000 genomes]
rs12040996	1.00[ASN][1000 genomes]
rs12043790	0.93[ASN][1000 genomes]
rs12044358	0.93[ASN][1000 genomes]
rs12044652	1.00[ASN][1000 genomes]
rs12046297	0.85[ASN][1000 genomes]
rs12047342	1.00[ASN][1000 genomes]
rs12047952	0.88[ASN][1000 genomes]
rs1542507	0.93[ASN][1000 genomes]
rs16842259	0.98[ASN][1000 genomes]
rs1981168	0.85[ASN][1000 genomes]
rs1981169	0.85[ASN][1000 genomes]
rs1981170	0.85[ASN][1000 genomes]
rs28370095	0.91[ASN][1000 genomes]
rs28370112	0.91[ASN][1000 genomes]
rs28370115	0.90[ASN][1000 genomes]
rs28370160	0.95[ASN][1000 genomes]
rs28370166	0.93[ASN][1000 genomes]
rs28370174	0.93[ASN][1000 genomes]
rs28370177	0.93[ASN][1000 genomes]
rs28370178	0.93[ASN][1000 genomes]
rs3754088	0.91[ASN][1000 genomes]
rs3767710	0.93[ASN][1000 genomes]
rs3767712	0.86[ASN][1000 genomes]
rs3767713	0.91[ASN][1000 genomes]
rs3820474	0.93[ASN][1000 genomes]
rs3820481	0.91[ASN][1000 genomes]
rs60681980	0.88[ASN][1000 genomes]
rs61437308	0.98[ASN][1000 genomes]
rs747811	0.93[ASN][1000 genomes]
rs7538151	0.91[ASN][1000 genomes]
rs9804140	0.91[ASN][1000 genomes]
rs9970756	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr1:224034600-224038400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:224034800-224039000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:224034800-224041200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:224035000-224041200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:224038000-224038200	Bivalent Enhancer	GM12878-XiMat	blood

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