Variant report

Variant	rs422331
Chromosome Location	chr6:28810817-28810818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28808316..28811196-chr6:28890836..28893295,2	MCF-7	breast:
2	chr6:28810165..28812490-chr6:28833681..28835706,2	MCF-7	breast:
3	chr6:28806394..28809011-chr6:28809374..28811092,3	K562	blood:
4	chr6:28802089..28805031-chr6:28809427..28811386,2	K562	blood:
5	chr6:28809293..28810970-chr6:28814683..28816407,2	MCF-7	breast:
6	chr6:28810153..28812168-chr6:28888195..28890766,2	K562	blood:
7	chr6:28805205..28806782-chr6:28809772..28812614,2	K562	blood:

Variant related genes	Relation type
ENSG00000225173	Chromatin interaction
ENSG00000204713	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1061625	0.84[ASN][1000 genomes]
rs172326	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1794588	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs184094	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2013652	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs209127	0.84[ASN][1000 genomes]
rs209140	0.91[ASN][1000 genomes]
rs209147	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs209151	0.97[ASN][1000 genomes]
rs209165	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs209172	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs209177	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs209180	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2097424	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2148007	0.87[ASN][1000 genomes]
rs2269553	0.83[ASN][1000 genomes]
rs28381661	0.85[ASN][1000 genomes]
rs28381663	0.83[ASN][1000 genomes]
rs28743260	0.85[ASN][1000 genomes]
rs2894066	0.84[ASN][1000 genomes]
rs3131067	0.81[ASN][1000 genomes]
rs3132377	0.84[ASN][1000 genomes]
rs3132380	0.80[ASN][1000 genomes]
rs3135314	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs413972	0.94[ASN][1000 genomes]
rs429369	0.94[ASN][1000 genomes]
rs4484511	0.92[ASN][1000 genomes]
rs6909419	0.83[ASN][1000 genomes]
rs743847	0.90[ASN][1000 genomes]
rs7750338	0.94[ASN][1000 genomes]
rs7763940	0.85[ASN][1000 genomes]
rs7769221	0.94[ASN][1000 genomes]
rs7776376	0.85[ASN][1000 genomes]
rs876737	0.81[ASN][1000 genomes]
rs9257269	0.91[ASN][1000 genomes]
rs9257270	0.91[ASN][1000 genomes]
rs9257274	0.92[ASN][1000 genomes]
rs9257280	0.89[ASN][1000 genomes]
rs9257281	0.90[ASN][1000 genomes]
rs9257328	0.94[ASN][1000 genomes]
rs929042	0.83[ASN][1000 genomes]
rs9368576	0.85[ASN][1000 genomes]
rs9378149	0.85[ASN][1000 genomes]
rs9393932	0.85[ASN][1000 genomes]
rs9393933	0.85[ASN][1000 genomes]
rs9404976	0.85[ASN][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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
4	esv3403240	chr6:28808022-28832799	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs422331	ZKSCAN3	cis	cerebellum	SCAN
rs422331	ZNF323	cis	parietal	SCAN
rs422331	HIST1H2AE	cis	cerebellum	SCAN
rs422331	HIST1H2BH	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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