Variant report

Variant	rs58254953
Chromosome Location	chr11:119472670-119472671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119470940..119473029-chr11:119473799..119475641,2	K562	blood:

Variant related genes	Relation type
ENSG00000230716	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10466593	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10466594	0.82[EUR][1000 genomes]
rs10750157	0.80[EUR][1000 genomes]
rs10790315	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10790316	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10790317	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10790318	0.82[EUR][1000 genomes]
rs10790320	0.85[EUR][1000 genomes]
rs10790321	0.97[EUR][1000 genomes]
rs10790322	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10892409	0.80[EUR][1000 genomes]
rs10892413	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10892415	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10892416	0.81[EUR][1000 genomes]
rs10892418	0.83[EUR][1000 genomes]
rs10892419	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10892420	0.85[EUR][1000 genomes]
rs11217325	0.80[EUR][1000 genomes]
rs11217326	0.80[EUR][1000 genomes]
rs11217327	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11217329	0.82[EUR][1000 genomes]
rs11217344	0.81[ASN][1000 genomes]
rs11217350	0.98[EUR][1000 genomes]
rs11608077	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12277021	0.80[EUR][1000 genomes]
rs12277899	0.80[EUR][1000 genomes]
rs12293402	0.80[EUR][1000 genomes]
rs12417207	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12421445	0.91[EUR][1000 genomes]
rs1396776	0.82[EUR][1000 genomes]
rs1567377	0.83[EUR][1000 genomes]
rs1567378	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2048247	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2048248	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271249	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271250	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2368426	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2368427	0.81[EUR][1000 genomes]
rs35626144	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3751020	0.85[EUR][1000 genomes]
rs4245196	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4328225	0.85[EUR][1000 genomes]
rs4581455	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4622279	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4936488	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4938690	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4938691	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56220308	0.80[EUR][1000 genomes]
rs61898748	0.80[EUR][1000 genomes]
rs6589764	0.98[EUR][1000 genomes]
rs7121550	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7935369	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7935488	0.82[EUR][1000 genomes]
rs7949154	0.82[EUR][1000 genomes]
rs7950231	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs906820	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv983068	chr11:119472667-119476571	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119468600-119473400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:119469400-119473800	Weak transcription	Pancreas	Pancrea
3	chr11:119471200-119476000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:119471800-119485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:119472200-119477400	Weak transcription	Brain Substantia Nigra	brain
6	chr11:119472400-119472800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:119472400-119472800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr11:119472400-119474000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:119472400-119475400	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:119472600-119472800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:119472600-119472800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:119472600-119475600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:119472600-119476600	Weak transcription	Brain Cingulate Gyrus	brain

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