Variant report

Variant	rs72472134
Chromosome Location	chr11:59053057-59053058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10792230	0.85[EUR][1000 genomes]
rs17153691	1.00[AFR][1000 genomes]
rs4372475	0.85[EUR][1000 genomes]
rs57417127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57556536	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58090903	1.00[AFR][1000 genomes]
rs59300876	1.00[AFR][1000 genomes]
rs59966846	1.00[AFR][1000 genomes]
rs61001950	1.00[AFR][1000 genomes]
rs7122295	0.80[EUR][1000 genomes]
rs72472135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72472136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72472137	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72472138	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7929185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3381199	chr11:59015574-59068938	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59050200-59053200	Enhancers	Liver	Liver
2	chr11:59051400-59053800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:59051600-59054600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:59051600-59056600	Weak transcription	Spleen	Spleen
5	chr11:59051800-59053400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:59051800-59054800	Weak transcription	Pancreas	Pancrea
7	chr11:59052200-59054600	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:59052400-59054600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:59052400-59055000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:59052400-59055200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:59052400-59056800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:59052600-59053600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:59052600-59054400	Enhancers	Primary B cells from cord blood	blood
14	chr11:59052600-59054600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:59052800-59053800	Enhancers	GM12878-XiMat	blood
16	chr11:59053000-59053400	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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