Variant report

Variant	rs12288571
Chromosome Location	chr11:104654370-104654371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1030396	0.88[ASN][1000 genomes]
rs10791727	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895729	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895734	0.88[ASN][1000 genomes]
rs11226522	0.88[ASN][1000 genomes]
rs11226523	0.88[ASN][1000 genomes]
rs1147035	0.81[EUR][1000 genomes]
rs1147036	0.83[EUR][1000 genomes]
rs1147037	0.83[EUR][1000 genomes]
rs1147040	0.83[EUR][1000 genomes]
rs1147042	0.83[EUR][1000 genomes]
rs1147045	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1200649	0.81[EUR][1000 genomes]
rs1200650	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200656	0.83[EUR][1000 genomes]
rs12272284	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12281159	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285132	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12290966	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12362816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12790772	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12808709	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1344309	0.88[ASN][1000 genomes]
rs1365391	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1426545	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834631	0.81[AMR][1000 genomes]
rs1892927	0.80[EUR][1000 genomes]
rs1944899	0.88[ASN][1000 genomes]
rs2162340	0.88[ASN][1000 genomes]
rs2845897	0.81[EUR][1000 genomes]
rs7130861	0.80[ASN][1000 genomes]
rs72972953	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7484214	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924865	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925694	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7926917	0.81[EUR][1000 genomes]
rs960904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs985406	0.82[AMR][1000 genomes]
rs988591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1050346	chr11:104548749-104664665	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104651200-104654400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr11:104651200-104654800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:104651200-104654800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:104651200-104656200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:104653400-104654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:104653800-104654600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:104654000-104654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:104654000-104654600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:104654200-104655000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:104654200-104655400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:104654200-104655800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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