Variant report

Variant	rs9295747
Chromosome Location	chr6:27736993-27736994
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27114866..27116951-chr6:27736291..27737934,2	K562	blood:

Variant related genes	Relation type
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10946938	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs10946940	0.84[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[MKK][hapmap]
rs200480	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs200951	0.91[LWK][hapmap]
rs200988	0.81[CHD][hapmap];0.88[LWK][hapmap];0.80[YRI][hapmap]
rs200997	0.82[CHB][hapmap];0.83[CHD][hapmap];0.94[LWK][hapmap];0.80[YRI][hapmap]
rs2056924	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2179095	0.80[TSI][hapmap]
rs2179096	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2294480	0.86[JPT][hapmap]
rs2294481	0.86[JPT][hapmap]
rs4713120	0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs510987	0.81[CHD][hapmap];0.86[LWK][hapmap]
rs57252182	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456799	0.84[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.81[MKK][hapmap]
rs6921256	0.87[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap]
rs742046	0.83[TSI][hapmap]
rs7759217	0.83[TSI][hapmap]
rs9348772	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9366699	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9368527	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9380007	0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs9393830	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs9393831	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs9461405	0.86[TSI][hapmap]
rs9468209	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9468213	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9295747	AL022393.7	cis	Muscle Skeletal	GTEx
rs9295747	ZNF323	cis	Frontal Cortex	GTEx
rs9295747	ZNF323	cis	Brain Pons	GTEx
rs9295747	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27725600-27743000	Weak transcription	Right Atrium	heart
2	chr6:27726400-27738600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:27729600-27737000	Weak transcription	K562	blood
4	chr6:27730600-27740000	Weak transcription	Spleen	Spleen
5	chr6:27730800-27739000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:27730800-27740000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:27736400-27737400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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