Variant report

Variant	rs10849816
Chromosome Location	chr12:121349269-121349270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121341251..121344109-chr12:121345996..121349521,4	K562	blood:
2	chr12:121341147..121344429-chr12:121344566..121350516,5	K562	blood:
3	chr12:121339867..121343058-chr12:121346216..121349525,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10160872	0.89[ASN][1000 genomes]
rs10459142	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10774573	0.89[ASN][1000 genomes]
rs10774575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774576	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849805	0.85[ASN][1000 genomes]
rs10849806	0.85[ASN][1000 genomes]
rs10849810	0.85[ASN][1000 genomes]
rs10849811	0.89[ASN][1000 genomes]
rs10849812	0.89[ASN][1000 genomes]
rs10849813	0.89[ASN][1000 genomes]
rs10849815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065298	0.83[ASN][1000 genomes]
rs11065313	0.85[ASN][1000 genomes]
rs11065319	0.89[ASN][1000 genomes]
rs11065320	0.89[ASN][1000 genomes]
rs11065321	0.90[ASN][1000 genomes]
rs11065322	0.90[ASN][1000 genomes]
rs12231343	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310161	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2049211	0.85[ASN][1000 genomes]
rs34433264	0.94[ASN][1000 genomes]
rs3809314	0.88[ASN][1000 genomes]
rs56161401	0.91[ASN][1000 genomes]
rs7131886	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7139145	0.89[ASN][1000 genomes]
rs7296632	0.92[ASN][1000 genomes]
rs7298639	0.89[ASN][1000 genomes]
rs7315439	0.85[ASN][1000 genomes]
rs7316450	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv560452	chr12:121341581-121357934	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv975534	chr12:121347729-121360386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121343000-121362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121346000-121352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:121347400-121352200	Weak transcription	Esophagus	oesophagus
4	chr12:121347600-121352200	Weak transcription	Placenta	Placenta
5	chr12:121348000-121352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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