Variant report

Variant	rs12272104
Chromosome Location	chr11:17624465-17624466
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1003490	1.00[ASN][1000 genomes]
rs10741730	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766411	0.90[EUR][1000 genomes]
rs10832807	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10832808	0.90[EUR][1000 genomes]
rs10832810	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832812	0.90[EUR][1000 genomes]
rs10832813	0.90[EUR][1000 genomes]
rs10832814	0.90[EUR][1000 genomes]
rs10832815	0.90[EUR][1000 genomes]
rs11024329	0.90[EUR][1000 genomes]
rs11024330	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024349	0.87[ASN][1000 genomes]
rs11827077	1.00[ASN][1000 genomes]
rs12277962	0.87[ASN][1000 genomes]
rs4757551	0.87[ASN][1000 genomes]
rs4757552	0.87[ASN][1000 genomes]
rs56136656	0.90[EUR][1000 genomes]
rs60504216	1.00[ASN][1000 genomes]
rs61880560	1.00[ASN][1000 genomes]
rs61880563	0.87[ASN][1000 genomes]
rs7129066	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871849	0.87[ASN][1000 genomes]
rs7924620	0.90[EUR][1000 genomes]
rs7928233	1.00[ASN][1000 genomes]
rs7940163	0.89[EUR][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	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469938	chr11:17615203-17656148	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv467715	chr11:17615655-17656148	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv553587	chr11:17615655-17656148	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv897023	chr11:17617468-17667561	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv897024	chr11:17617468-17692011	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv897025	chr11:17619908-17640500	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17620400-17628800	Weak transcription	Right Atrium	heart
2	chr11:17622200-17625200	Enhancers	Fetal Muscle Leg	muscle
3	chr11:17623400-17626000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:17623600-17627000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:17623600-17627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:17624400-17625200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:17624400-17629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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