Variant report

Variant	rs62448165
Chromosome Location	chr7:12901966-12901967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12893404..12896588-chr7:12899254..12902524,3	K562	blood:
2	chr7:12898438..12903845-chr7:12907285..12911161,5	K562	blood:
3	chr7:12893404..12895806-chr7:12900153..12902859,2	K562	blood:
4	chr7:12899240..12902196-chr7:12906624..12908887,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10249974	0.89[EUR][1000 genomes]
rs12112736	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13222475	0.84[ASN][1000 genomes]
rs17680996	0.81[ASN][1000 genomes]
rs2215334	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28407859	0.89[EUR][1000 genomes]
rs28587853	0.94[EUR][1000 genomes]
rs58528138	0.89[EUR][1000 genomes]
rs62445809	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445810	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445811	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445812	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445825	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445826	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445827	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445828	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445829	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445831	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445832	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445833	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445834	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445837	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445838	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445851	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445852	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62445853	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445854	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445855	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445856	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445857	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448170	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448183	1.00[EUR][1000 genomes]
rs6956351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960791	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961220	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6966108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764903	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780699	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793712	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794334	0.89[EUR][1000 genomes]
rs7796721	0.94[EUR][1000 genomes];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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12897600-12903200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:12901200-12905000	Weak transcription	K562	blood
3	chr7:12901200-12905400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:12901200-12905400	Weak transcription	Fetal Kidney	kidney

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