Variant report

Variant	rs12565573
Chromosome Location	chr1:224072892-224072893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10465524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10495215	1.00[JPT][hapmap]
rs10495216	1.00[JPT][hapmap]
rs10495217	1.00[JPT][hapmap]
rs10503144	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12059128	1.00[ASN][1000 genomes]
rs12059770	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12060361	1.00[ASN][1000 genomes]
rs12080250	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12091841	1.00[ASN][1000 genomes]
rs12563637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12564557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565202	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565967	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12566817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842162	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16842229	0.87[ASN][1000 genomes]
rs16842257	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16842326	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16842343	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17557288	1.00[JPT][hapmap]
rs17557525	1.00[JPT][hapmap]
rs17557623	1.00[JPT][hapmap]
rs28370159	1.00[ASN][1000 genomes]
rs28370170	1.00[ASN][1000 genomes]
rs34683843	1.00[ASN][1000 genomes]
rs36032024	1.00[ASN][1000 genomes]
rs3885657	1.00[ASN][1000 genomes]
rs41303996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58774026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823581	1.00[ASN][1000 genomes]
rs61823583	1.00[ASN][1000 genomes]
rs61823585	1.00[ASN][1000 genomes]
rs61823587	1.00[ASN][1000 genomes]
rs61823591	1.00[ASN][1000 genomes]
rs61824003	1.00[ASN][1000 genomes]
rs61824008	1.00[ASN][1000 genomes]
rs6604724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6604727	1.00[ASN][1000 genomes]
rs6604728	1.00[ASN][1000 genomes]
rs6604729	1.00[ASN][1000 genomes]
rs6604730	1.00[ASN][1000 genomes]
rs6658954	1.00[ASN][1000 genomes]
rs6678365	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6682964	1.00[ASN][1000 genomes]
rs6685475	1.00[JPT][hapmap]
rs6685557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6691315	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6693372	1.00[JPT][hapmap]
rs6693884	1.00[JPT][hapmap]
rs6694960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6696053	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6696222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73116425	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116456	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7515821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528455	1.00[ASN][1000 genomes]
rs7530328	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7533551	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7535882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7549063	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1817834	chr1:224052449-224095114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803377	chr1:224052449-224108920	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv522556	chr1:224061898-224075483	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224064200-224074400	Weak transcription	K562	blood
2	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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