Variant report

Variant	rs483629
Chromosome Location	chr11:59899911-59899912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59899268..59901225-chr11:59929250..59931810,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs107903	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10897009	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11230147	0.83[EUR][1000 genomes]
rs11230153	0.87[EUR][1000 genomes]
rs11230155	0.87[EUR][1000 genomes]
rs1125357	0.86[EUR][1000 genomes]
rs11600716	0.87[EUR][1000 genomes]
rs12226022	0.84[EUR][1000 genomes]
rs1303615	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1303621	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1441586	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17528859	0.82[EUR][1000 genomes]
rs17529983	0.85[EUR][1000 genomes]
rs1786137	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1813217	0.82[EUR][1000 genomes]
rs2070970	0.81[EUR][1000 genomes]
rs2165525	0.87[EUR][1000 genomes]
rs2583471	0.81[EUR][1000 genomes]
rs2583476	0.81[EUR][1000 genomes]
rs2847663	0.81[EUR][1000 genomes]
rs2847664	0.81[EUR][1000 genomes]
rs2847668	0.81[EUR][1000 genomes]
rs2855017	0.82[EUR][1000 genomes]
rs487997	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4939311	0.86[EUR][1000 genomes]
rs4939312	0.87[EUR][1000 genomes]
rs4939314	0.87[EUR][1000 genomes]
rs502419	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs502581	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs504272	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510518	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512495	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs514266	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs516478	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs521952	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs525794	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534273	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540170	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs555635	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs556917	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55847558	0.86[EUR][1000 genomes]
rs563803	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs564912	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs569046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574695	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574704	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs574798	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs580064	0.81[EUR][1000 genomes]
rs580817	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs581133	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs583791	0.84[EUR][1000 genomes]
rs602396	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610932	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61901691	0.84[EUR][1000 genomes]
rs624663	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs631853	0.85[EUR][1000 genomes]
rs632185	0.84[EUR][1000 genomes]
rs634475	0.85[EUR][1000 genomes]
rs636147	0.82[EUR][1000 genomes]
rs652354	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs662196	0.85[EUR][1000 genomes]
rs667897	0.80[AMR][1000 genomes]
rs7124974	0.84[EUR][1000 genomes]
rs920573	0.87[EUR][1000 genomes]
rs983392	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv976467	chr11:59898261-59911928	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59895400-59907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:59898400-59900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:59899200-59900400	Enhancers	Fetal Intestine Large	intestine
4	chr11:59899200-59900400	Enhancers	Fetal Intestine Small	intestine
5	chr11:59899400-59900200	Enhancers	Rectal Mucosa Donor 31	rectum

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