Variant report

Variant	rs654443
Chromosome Location	chr11:59963357-59963358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1286182	0.85[EUR][1000 genomes]
rs1294440	0.85[EUR][1000 genomes]
rs1303617	0.85[EUR][1000 genomes]
rs1303618	0.85[EUR][1000 genomes]
rs1303619	0.85[EUR][1000 genomes]
rs1303620	0.85[EUR][1000 genomes]
rs1303622	0.85[EUR][1000 genomes]
rs1315507	0.85[EUR][1000 genomes]
rs1426252	0.87[ASN][1000 genomes]
rs1441585	0.82[EUR][1000 genomes]
rs2081546	0.87[ASN][1000 genomes]
rs2243987	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433240	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847662	0.82[EUR][1000 genomes]
rs474888	0.85[EUR][1000 genomes]
rs475494	0.85[EUR][1000 genomes]
rs475812	0.85[EUR][1000 genomes]
rs477352	0.85[EUR][1000 genomes]
rs485682	0.85[EUR][1000 genomes]
rs489297	0.85[EUR][1000 genomes]
rs500886	0.85[EUR][1000 genomes]
rs500888	0.85[EUR][1000 genomes]
rs512548	0.85[EUR][1000 genomes]
rs512555	0.85[EUR][1000 genomes]
rs519743	0.85[EUR][1000 genomes]
rs523806	0.85[EUR][1000 genomes]
rs524755	0.85[EUR][1000 genomes]
rs524995	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs528421	0.85[EUR][1000 genomes]
rs535413	0.85[EUR][1000 genomes]
rs541468	0.85[EUR][1000 genomes]
rs542665	0.85[EUR][1000 genomes]
rs546840	0.85[EUR][1000 genomes]
rs548515	0.85[EUR][1000 genomes]
rs549633	0.85[EUR][1000 genomes]
rs562442	0.85[EUR][1000 genomes]
rs562637	0.85[EUR][1000 genomes]
rs569108	0.85[EUR][1000 genomes]
rs571582	0.85[EUR][1000 genomes]
rs572084	0.85[EUR][1000 genomes]
rs573305	0.85[EUR][1000 genomes]
rs574060	0.85[EUR][1000 genomes]
rs575103	0.85[EUR][1000 genomes]
rs575930	0.85[EUR][1000 genomes]
rs576295	0.85[EUR][1000 genomes]
rs576483	0.85[EUR][1000 genomes]
rs576616	0.85[EUR][1000 genomes]
rs578269	0.85[EUR][1000 genomes]
rs581818	1.00[ASN][1000 genomes]
rs582407	0.87[ASN][1000 genomes]
rs585540	0.86[ASN][1000 genomes]
rs587634	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588448	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs590351	0.97[ASN][1000 genomes]
rs590532	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs592496	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594414	0.87[ASN][1000 genomes]
rs595014	0.87[ASN][1000 genomes]
rs596788	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597982	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs598862	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600194	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs605820	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs607639	0.87[ASN][1000 genomes]
rs613548	0.84[ASN][1000 genomes]
rs613629	0.87[ASN][1000 genomes]
rs615405	0.87[ASN][1000 genomes]
rs620368	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs624233	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625025	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636988	0.87[ASN][1000 genomes]
rs638872	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641051	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641829	0.87[ASN][1000 genomes]
rs642426	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646924	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649234	0.86[ASN][1000 genomes]
rs650777	0.87[ASN][1000 genomes]
rs650853	0.85[ASN][1000 genomes]
rs650926	0.87[ASN][1000 genomes]
rs653285	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661376	0.85[ASN][1000 genomes]
rs662674	0.86[ASN][1000 genomes]
rs668095	0.86[ASN][1000 genomes]
rs668134	0.86[ASN][1000 genomes]
rs670925	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672218	0.87[ASN][1000 genomes]
rs674971	0.87[ASN][1000 genomes]
rs675316	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs675452	0.84[ASN][1000 genomes]
rs680699	0.97[ASN][1000 genomes]
rs682025	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs682739	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684977	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485360	0.81[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	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
2	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
3	nsv832174	chr11:59909267-60073908	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3411552	chr11:59962126-59964224	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3322928	chr11:59962526-59963774	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs654443	C11orf64	cis	occipital cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59960200-59965000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:59960400-59965400	Enhancers	Dnd41	blood
3	chr11:59961000-59963600	Enhancers	Fetal Intestine Large	intestine
4	chr11:59961000-59963800	Enhancers	Primary B cells from cord blood	blood
5	chr11:59961000-59965000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:59961200-59963600	Enhancers	Fetal Intestine Small	intestine
7	chr11:59961600-59963600	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:59961600-59963600	Enhancers	Ovary	ovary
9	chr11:59962200-59965000	Enhancers	HUVEC	blood vessel
10	chr11:59962400-59963400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:59962400-59963400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:59962400-59963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:59962600-59963400	Enhancers	K562	blood
14	chr11:59963200-59963800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:59963200-59963800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:59963200-59964000	Flanking Active TSS	GM12878-XiMat	blood

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