Variant report

Variant	rs12047952
Chromosome Location	chr1:224056293-224056294
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	chr1:224031941..224034592-chr1:224054767..224056750,2	K562	blood:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10158199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10159010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153962	1.00[EUR][1000 genomes]
rs1153966	1.00[EUR][1000 genomes]
rs12022914	0.86[ASN][1000 genomes]
rs12022920	0.86[ASN][1000 genomes]
rs12024059	0.86[ASN][1000 genomes]
rs12025911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12027762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028843	0.86[ASN][1000 genomes]
rs12029400	0.97[ASN][1000 genomes]
rs12031089	0.97[ASN][1000 genomes]
rs12031127	0.97[ASN][1000 genomes]
rs12031539	0.97[ASN][1000 genomes]
rs12031859	0.86[ASN][1000 genomes]
rs12032205	0.97[ASN][1000 genomes]
rs12032254	0.97[ASN][1000 genomes]
rs12032570	0.97[ASN][1000 genomes]
rs12033388	0.97[ASN][1000 genomes]
rs12033399	0.97[ASN][1000 genomes]
rs12033405	0.97[ASN][1000 genomes]
rs12034120	0.88[ASN][1000 genomes]
rs12034364	0.97[ASN][1000 genomes]
rs12034534	0.97[ASN][1000 genomes]
rs12034737	0.97[ASN][1000 genomes]
rs12034914	0.88[ASN][1000 genomes]
rs12035506	0.92[ASN][1000 genomes]
rs12035610	0.87[ASN][1000 genomes]
rs12036636	0.97[ASN][1000 genomes]
rs12036693	0.97[ASN][1000 genomes]
rs12036717	0.88[ASN][1000 genomes]
rs12037893	0.87[ASN][1000 genomes]
rs12038665	0.86[ASN][1000 genomes]
rs12038706	0.88[ASN][1000 genomes]
rs12039721	0.88[ASN][1000 genomes]
rs12040996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12043790	0.81[ASN][1000 genomes]
rs12044358	0.81[ASN][1000 genomes]
rs12044652	0.88[ASN][1000 genomes]
rs12044659	0.88[ASN][1000 genomes]
rs12047342	0.88[ASN][1000 genomes]
rs1222131	1.00[EUR][1000 genomes]
rs12239235	1.00[EUR][1000 genomes]
rs12239402	1.00[EUR][1000 genomes]
rs12239445	1.00[EUR][1000 genomes]
rs12239678	1.00[EUR][1000 genomes]
rs13375296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1401319	1.00[EUR][1000 genomes]
rs1542507	0.81[ASN][1000 genomes]
rs16842078	1.00[EUR][1000 genomes]
rs16842173	1.00[EUR][1000 genomes]
rs16842177	1.00[EUR][1000 genomes]
rs16842201	1.00[EUR][1000 genomes]
rs16842217	1.00[EUR][1000 genomes]
rs16842234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16842291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1981168	0.97[ASN][1000 genomes]
rs1981169	0.97[ASN][1000 genomes]
rs1981170	0.97[ASN][1000 genomes]
rs2230082	1.00[EUR][1000 genomes]
rs28370064	1.00[EUR][1000 genomes]
rs28370079	1.00[EUR][1000 genomes]
rs28370099	1.00[EUR][1000 genomes]
rs28370160	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28370161	1.00[EUR][1000 genomes]
rs28370162	1.00[EUR][1000 genomes]
rs28370166	0.81[ASN][1000 genomes]
rs28370174	0.81[ASN][1000 genomes]
rs28370177	0.81[ASN][1000 genomes]
rs28370178	0.81[ASN][1000 genomes]
rs28458390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28684725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3767710	0.81[ASN][1000 genomes]
rs3820474	0.81[ASN][1000 genomes]
rs41345146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56947789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57380389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58753599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58954846	1.00[EUR][1000 genomes]
rs59433589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59793743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59948383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60681980	1.00[ASN][1000 genomes]
rs61056357	1.00[EUR][1000 genomes]
rs61162360	1.00[EUR][1000 genomes]
rs61437308	0.86[ASN][1000 genomes]
rs6664674	1.00[EUR][1000 genomes]
rs73114413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73122500	1.00[EUR][1000 genomes]
rs73124468	1.00[EUR][1000 genomes]
rs73124491	1.00[EUR][1000 genomes]
rs73124493	1.00[EUR][1000 genomes]
rs73125398	1.00[EUR][1000 genomes]
rs73127405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747811	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7515215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286986	1.00[EUR][1000 genomes]
rs9970756	1.00[EUR][1000 genomes]

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	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
4	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
5	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
6	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
7	nsv945313	chr1:224048561-224060636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224052600-224057800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:224052800-224058200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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