Variant report

Variant	rs72991244
Chromosome Location	chr11:74443151-74443152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74440853..74443969-chr11:74454724..74458008,3	K562	blood:
2	chr11:74441741..74443246-chr11:74464573..74467415,2	K562	blood:
3	chr11:74442292..74444632-chr11:74458905..74460559,2	K562	blood:

Variant related genes	Relation type
ENSG00000264095	Chromatin interaction
ENSG00000166439	Chromatin interaction
ENSG00000227615	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10160407	1.00[ASN][1000 genomes]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236247	1.00[ASN][1000 genomes]
rs11236249	1.00[ASN][1000 genomes]
rs11236259	1.00[ASN][1000 genomes]
rs11501909	1.00[ASN][1000 genomes]
rs11501910	1.00[ASN][1000 genomes]
rs12270712	1.00[ASN][1000 genomes]
rs12271211	1.00[ASN][1000 genomes]
rs12272764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274227	1.00[ASN][1000 genomes]
rs12275056	1.00[ASN][1000 genomes]
rs12278314	1.00[ASN][1000 genomes]
rs12283412	1.00[ASN][1000 genomes]
rs12283768	1.00[ASN][1000 genomes]
rs12284331	1.00[ASN][1000 genomes]
rs12286425	1.00[ASN][1000 genomes]
rs12286482	1.00[ASN][1000 genomes]
rs12287287	1.00[ASN][1000 genomes]
rs12288052	1.00[ASN][1000 genomes]
rs12290339	1.00[ASN][1000 genomes]
rs4133526	1.00[ASN][1000 genomes]
rs56306513	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57031821	1.00[ASN][1000 genomes]
rs59481855	1.00[ASN][1000 genomes]
rs6592593	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109667	1.00[ASN][1000 genomes]
rs7125078	1.00[ASN][1000 genomes]
rs7128783	1.00[ASN][1000 genomes]
rs72991236	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991239	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73490680	1.00[ASN][1000 genomes]
rs73490691	1.00[ASN][1000 genomes]
rs73492727	1.00[ASN][1000 genomes]
rs73492743	1.00[ASN][1000 genomes]
rs73492794	1.00[ASN][1000 genomes]
rs73496929	1.00[ASN][1000 genomes]
rs73496931	1.00[ASN][1000 genomes]
rs7928010	1.00[ASN][1000 genomes]
rs7947106	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943586	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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 miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74441200-74443200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:74441600-74443200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:74442000-74443200	Bivalent Enhancer	Fetal Brain Male	brain
4	chr11:74442000-74443400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr11:74442200-74443200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:74442200-74443200	Bivalent/Poised TSS	HSMM	muscle
7	chr11:74442600-74443200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:74442800-74443200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:74442800-74443200	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:74442800-74443200	Bivalent Enhancer	Left Ventricle	heart
11	chr11:74442800-74443400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr11:74442800-74444200	Bivalent Enhancer	HepG2	liver
13	chr11:74443000-74443200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr11:74443000-74443200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:74443000-74443200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
16	chr11:74443000-74443200	Bivalent Enhancer	Colon Smooth Muscle	Colon
17	chr11:74443000-74443200	Bivalent Enhancer	Fetal Kidney	kidney
18	chr11:74443000-74443200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
19	chr11:74443000-74443200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr11:74443000-74443200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr11:74443000-74443400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:74443000-74443400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:74443000-74443400	Bivalent Enhancer	Fetal Stomach	stomach
24	chr11:74443000-74443400	Enhancers	Right Atrium	heart
25	chr11:74443000-74443400	ZNF genes & repeats	Spleen	Spleen

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