Variant report

Variant	rs6478839
Chromosome Location	chr9:101488618-101488619
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	chr9:101486778..101488794-chr9:101492764..101494651,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10121153	0.87[ASN][1000 genomes]
rs1022796	0.88[ASN][1000 genomes]
rs10739690	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10760475	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760479	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10760494	0.84[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs10819266	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10819308	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10819320	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10987749	0.84[ASN][1000 genomes]
rs11791440	0.84[ASN][1000 genomes]
rs12057064	0.80[EUR][1000 genomes]
rs12380570	0.88[EUR][1000 genomes]
rs1555519	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs168083	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs173066	0.84[EUR][1000 genomes]
rs186809	0.84[EUR][1000 genomes]
rs337569	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs337572	0.88[EUR][1000 genomes]
rs337577	0.87[EUR][1000 genomes]
rs337578	0.85[EUR][1000 genomes]
rs337581	0.84[EUR][1000 genomes]
rs337591	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs3889747	0.84[EUR][1000 genomes]
rs3933477	0.84[ASN][1000 genomes]
rs404680	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs420158	0.82[CEU][hapmap];0.88[YRI][hapmap]
rs422531	0.83[EUR][1000 genomes]
rs450231	0.84[EUR][1000 genomes]
rs4742737	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4742738	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4742741	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4742745	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4743278	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4743281	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4743282	0.83[ASN][1000 genomes]
rs532824	0.84[EUR][1000 genomes]
rs554730	0.88[EUR][1000 genomes]
rs580809	0.83[EUR][1000 genomes]
rs60698775	0.83[EUR][1000 genomes]
rs6478845	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018907	0.89[ASN][1000 genomes]
rs7020056	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7027405	0.89[ASN][1000 genomes]
rs7027771	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7028766	0.81[EUR][1000 genomes]
rs7035107	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs7035722	0.81[EUR][1000 genomes]
rs7038640	0.83[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7047722	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs72735324	0.83[EUR][1000 genomes]
rs72735326	0.81[EUR][1000 genomes]
rs7357783	0.84[ASN][1000 genomes]
rs7469116	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7853904	0.83[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7861186	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7862858	0.89[EUR][1000 genomes]
rs7865233	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9886821	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9919074	0.81[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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2830198	chr9:101477500-101512140	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6478839	ANKS6	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101486400-101513000	Weak transcription	Right Atrium	heart
2	chr9:101488000-101489600	Enhancers	Fetal Stomach	stomach
3	chr9:101488000-101490200	Enhancers	Primary B cells from peripheral blood	blood
4	chr9:101488200-101489000	Enhancers	Primary B cells from cord blood	blood
5	chr9:101488200-101489400	Enhancers	Brain Cingulate Gyrus	brain
6	chr9:101488400-101489600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr9:101488400-101494000	Weak transcription	Left Ventricle	heart
8	chr9:101488600-101488800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:101488600-101488800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr9:101488600-101488800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr9:101488600-101489000	Enhancers	Fetal Muscle Leg	muscle
12	chr9:101488600-101489200	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:101488600-101489400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr9:101488600-101489400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:101488600-101489400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr9:101488600-101489600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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