Variant report

Variant	rs1003359
Chromosome Location	chr6:28486822-28486823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28460681..28463382-chr6:28485112..28487142,2	K562	blood:
2	chr6:28479083..28483084-chr6:28485098..28487603,3	K562	blood:
3	chr6:28485389..28487292-chr6:28492904..28494640,2	K562	blood:
4	chr6:28459930..28463382-chr6:28485112..28487200,3	K562	blood:

Variant related genes	Relation type
ENSG00000224586	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12661782	0.89[CHD][hapmap]
rs16894139	1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[ASN][1000 genomes]
rs2071966	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs2078035	0.87[ASN][1000 genomes]
rs2078439	0.87[ASN][1000 genomes]
rs2191037	0.85[ASN][1000 genomes]
rs2227228	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2531822	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2859355	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2859356	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[ASN][1000 genomes]
rs2859358	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs377514	0.87[ASN][1000 genomes]
rs380879	0.83[ASN][1000 genomes]
rs389118	0.85[AMR][1000 genomes]
rs406113	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs434112	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs437691	0.83[AMR][1000 genomes]
rs440481	0.85[ASN][1000 genomes]
rs445870	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448450	0.83[ASN][1000 genomes]
rs451774	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs454182	0.84[AMR][1000 genomes]
rs4713167	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456822	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921021	0.88[ASN][1000 genomes]
rs7743046	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759252	0.80[ASN][1000 genomes]
rs9468385	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[ASN][1000 genomes]
rs974334	0.91[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.85[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	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv601211	chr6:28483482-28521316	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1003359	ZNF323	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28483600-28490400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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