Variant report

Variant	rs1398715
Chromosome Location	chr3:191186993-191186994
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191186829..191191395-chr3:191192771..191196675,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1195742	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1398714	0.83[AFR][1000 genomes]
rs1656125	0.93[EUR][1000 genomes]
rs293823	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293824	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293827	0.95[ASN][1000 genomes]
rs293828	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs366765	0.96[ASN][1000 genomes]
rs380948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs382512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs388737	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs391382	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs393745	0.83[AFR][1000 genomes]
rs396381	0.83[AFR][1000 genomes]
rs398498	0.83[AFR][1000 genomes]
rs409461	0.83[AFR][1000 genomes]
rs410829	0.85[AFR][1000 genomes]
rs411571	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs412525	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs422820	0.83[AFR][1000 genomes]
rs422889	0.96[ASN][1000 genomes]
rs425783	0.83[AFR][1000 genomes]
rs430388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs430975	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs431095	0.81[AFR][1000 genomes]
rs431446	0.85[AFR][1000 genomes]
rs431601	0.83[AFR][1000 genomes]
rs433617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs438356	0.83[AFR][1000 genomes]
rs441207	0.83[AFR][1000 genomes]
rs445237	0.83[AFR][1000 genomes]
rs446434	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs447463	0.83[AFR][1000 genomes]
rs453387	0.81[AFR][1000 genomes]
rs475354	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs489779	0.81[AFR][1000 genomes]
rs501704	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs534424	0.83[AFR][1000 genomes]
rs542533	0.81[AFR][1000 genomes]
rs542562	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544881	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs545100	0.83[AFR][1000 genomes]
rs545989	0.81[AFR][1000 genomes]
rs547147	0.81[AFR][1000 genomes]
rs549832	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs550120	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550947	0.95[ASN][1000 genomes]
rs566578	0.83[AFR][1000 genomes]
rs572324	0.83[AFR][1000 genomes]
rs574421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781914	0.87[AFR][1000 genomes];0.96[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	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv878108	chr3:191175215-191223664	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv878109	chr3:191178925-191227296	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 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	chr3:191175400-191190200	Weak transcription	K562	blood
2	chr3:191186400-191188800	Enhancers	Fetal Lung	lung

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