Variant report

Variant	rs482385
Chromosome Location	chr11:104727712-104727713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12276274	1.00[EUR][1000 genomes]
rs12286054	1.00[EUR][1000 genomes]
rs17103106	1.00[EUR][1000 genomes]
rs17103307	1.00[EUR][1000 genomes]
rs17103313	1.00[EUR][1000 genomes]
rs2114368	1.00[EUR][1000 genomes]
rs2114369	1.00[EUR][1000 genomes]
rs2114370	1.00[EUR][1000 genomes]
rs2162342	1.00[EUR][1000 genomes]
rs34464472	1.00[EUR][1000 genomes]
rs3888096	1.00[EUR][1000 genomes]
rs4258348	1.00[EUR][1000 genomes]
rs4540818	1.00[EUR][1000 genomes]
rs477993	1.00[EUR][1000 genomes]
rs481322	1.00[ASN][1000 genomes]
rs484438	1.00[EUR][1000 genomes]
rs499423	1.00[ASN][1000 genomes]
rs5000899	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs501149	1.00[ASN][1000 genomes]
rs508916	1.00[EUR][1000 genomes]
rs509965	1.00[ASN][1000 genomes]
rs517153	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519907	1.00[ASN][1000 genomes]
rs520458	1.00[CHB][hapmap]
rs520766	1.00[EUR][1000 genomes]
rs521107	1.00[EUR][1000 genomes]
rs521270	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs521752	1.00[ASN][1000 genomes]
rs525020	1.00[EUR][1000 genomes]
rs527522	1.00[EUR][1000 genomes]
rs530398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531129	1.00[ASN][1000 genomes]
rs531439	1.00[ASN][1000 genomes]
rs532089	1.00[EUR][1000 genomes]
rs535297	1.00[ASN][1000 genomes]
rs541774	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs550051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552761	1.00[ASN][1000 genomes]
rs556062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556589	1.00[EUR][1000 genomes]
rs557069	1.00[EUR][1000 genomes]
rs566945	1.00[EUR][1000 genomes]
rs569468	1.00[ASN][1000 genomes]
rs579353	1.00[EUR][1000 genomes]
rs59301970	1.00[EUR][1000 genomes]
rs606399	1.00[EUR][1000 genomes]
rs608655	1.00[EUR][1000 genomes]
rs619515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626354	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640857	1.00[EUR][1000 genomes]
rs652377	1.00[EUR][1000 genomes]
rs655884	1.00[EUR][1000 genomes]
rs657708	1.00[ASN][1000 genomes]
rs693506	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv826072	chr11:104662708-104768357	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv33953	chr11:104709950-104737532	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv8869	chr11:104724605-104760037	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3465886	chr11:104724810-104759731	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3465897	chr11:104724823-104759731	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3465908	chr11:104724823-104759731	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104715600-104730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:104727000-104728400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:104727200-104728000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:104727200-104728800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:104727400-104727800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:104727400-104728000	Enhancers	NHEK	skin
7	chr11:104727400-104728600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:104727400-104728600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:104727600-104727800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:104727600-104728200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:104727600-104728600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:104727600-104728600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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