Variant report

Variant	rs1865331
Chromosome Location	chr2:21615820-21615821
allele	C/T
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	chr2:21615536-21616868	HEK293	kidney:	n/a	n/a
2	POLR2A	chr2:21615502-21615968	H1-neurons	neurons:	n/a	n/a
3	KAP1	chr2:21615462-21616796	U2OS	brain:	n/a	n/a
4	POLR2A	chr2:21615464-21615963	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21612257..21615069-chr2:21615594..21618412,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231204	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10168561	0.91[EUR][1000 genomes]
rs10185804	0.83[EUR][1000 genomes]
rs10187591	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10188686	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10206256	0.93[EUR][1000 genomes]
rs1030323	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1030736	0.92[EUR][1000 genomes]
rs1030737	0.92[EUR][1000 genomes]
rs11125980	0.99[EUR][1000 genomes]
rs11125982	0.99[EUR][1000 genomes]
rs11125983	0.99[EUR][1000 genomes]
rs11684506	0.89[EUR][1000 genomes]
rs11693815	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11695742	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11897265	0.85[EUR][1000 genomes]
rs12467135	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12713505	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713531	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713547	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713550	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713613	0.84[EUR][1000 genomes]
rs13001845	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027723	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13383973	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13420091	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13422474	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13424669	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13426350	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13430808	0.92[EUR][1000 genomes]
rs17042250	0.99[EUR][1000 genomes]
rs17042251	0.99[EUR][1000 genomes]
rs1865332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2117302	0.99[EUR][1000 genomes]
rs2164053	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2164054	0.99[EUR][1000 genomes]
rs2196164	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2216953	0.84[EUR][1000 genomes]
rs2338024	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34073712	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34120876	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34468506	0.92[EUR][1000 genomes]
rs35011116	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35325285	0.93[EUR][1000 genomes]
rs35585102	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141645	0.91[EUR][1000 genomes]
rs4557007	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546010	0.98[EUR][1000 genomes]
rs6546013	0.97[EUR][1000 genomes]
rs6546014	0.97[EUR][1000 genomes]
rs6546015	0.97[EUR][1000 genomes]
rs6546089	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6705624	0.96[EUR][1000 genomes]
rs6706857	0.98[EUR][1000 genomes]
rs6717828	0.99[EUR][1000 genomes]
rs6746898	0.84[EUR][1000 genomes]
rs736442	0.96[EUR][1000 genomes]
rs7562000	0.98[EUR][1000 genomes]
rs7567398	0.81[EUR][1000 genomes]
rs7568314	0.88[EUR][1000 genomes]
rs7581122	0.96[EUR][1000 genomes]
rs7594499	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7596106	0.91[EUR][1000 genomes]
rs9973644	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9973753	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv2631	chr2:21606995-21652014	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21582000-21634600	Weak transcription	Aorta	Aorta
2	chr2:21615400-21616200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:21615400-21616800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:21615600-21616000	Enhancers	Brain Germinal Matrix	brain
5	chr2:21615600-21616400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:21615800-21616200	Enhancers	Placenta Amnion	Placenta Amnion

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