Variant report

Variant	rs6429304
Chromosome Location	chr1:241914663-241914664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241913661..241915313-chr1:242019528..242022307,2	K562	blood:
2	chr1:241909815..241911533-chr1:241913799..241916723,2	K562	blood:
3	chr1:241913196..241915011-chr1:241920216..241922904,2	MCF-7	breast:
4	chr1:241799844..241805446-chr1:241909864..241915090,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054277	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10737867	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737868	0.97[ASN][1000 genomes]
rs10737869	0.96[ASN][1000 genomes]
rs10754735	0.83[ASN][1000 genomes]
rs10802988	0.82[ASN][1000 genomes]
rs10802989	0.82[ASN][1000 genomes]
rs10802990	0.82[ASN][1000 genomes]
rs10926561	0.84[ASN][1000 genomes]
rs10926563	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10926564	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10926569	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11809239	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12081277	0.84[ASN][1000 genomes]
rs1891566	0.81[ASN][1000 genomes]
rs3922506	0.84[ASN][1000 genomes]
rs3922507	0.84[ASN][1000 genomes]
rs4129118	0.95[ASN][1000 genomes]
rs4428871	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56396922	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6413961	0.83[ASN][1000 genomes]
rs6429300	0.99[ASN][1000 genomes]
rs6429301	0.84[ASN][1000 genomes]
rs6429305	0.96[ASN][1000 genomes]
rs6429312	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6429313	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6429314	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6666953	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669036	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669629	0.99[ASN][1000 genomes]
rs6680142	0.81[ASN][1000 genomes]
rs6695661	0.83[ASN][1000 genomes]
rs6695767	0.84[ASN][1000 genomes]
rs6696527	0.96[ASN][1000 genomes]
rs7368200	0.82[ASN][1000 genomes]
rs7411533	0.92[ASN][1000 genomes]
rs7411702	0.84[ASN][1000 genomes]
rs7418198	0.99[ASN][1000 genomes]
rs7418599	0.84[ASN][1000 genomes]
rs7526583	0.90[ASN][1000 genomes]
rs7526586	0.87[ASN][1000 genomes]
rs7530794	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530797	0.99[ASN][1000 genomes]
rs7533622	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7551270	0.96[ASN][1000 genomes]
rs9428515	0.81[ASN][1000 genomes]
rs9428516	0.81[ASN][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	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241913400-241915200	Enhancers	Placenta	Placenta
2	chr1:241914000-241915000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:241914000-241915000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:241914000-241915000	Weak transcription	Hela-S3	cervix
5	chr1:241914400-241915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:241914600-241914800	Enhancers	Aorta	Aorta
7	chr1:241914600-241915000	Active TSS	Brain Anterior Caudate	brain

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