Variant report

Variant	rs12722561
Chromosome Location	chr10:6069893-6069894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6068386..6070210-chr10:6087289..6089702,2	K562	blood:
2	chr10:6068815..6071156-chr10:6071379..6075335,3	K562	blood:
3	chr10:6017486..6019803-chr10:6068609..6071051,2	MCF-7	breast:
4	chr10:6059382..6061395-chr10:6068804..6071571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11256416	0.84[ASN][1000 genomes]
rs11591302	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11597237	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12722489	0.94[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap]
rs12722515	0.87[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs12722523	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12722527	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12722551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12722553	0.89[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12722559	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12722574	0.92[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs12722587	0.91[ASN][1000 genomes]
rs12722588	0.83[CEU][hapmap];0.92[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs17147986	0.94[CEU][hapmap];0.88[AMR][1000 genomes]
rs2246031	0.94[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs41294671	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41294713	0.92[EUR][1000 genomes]
rs4625363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4747837	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7093069	0.91[ASN][1000 genomes]
rs764851	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7900385	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7900744	0.85[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs791590	0.94[CEU][hapmap];0.92[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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv525927	chr10:6059898-6078079	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12722561	ANKRD16	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6060400-6070000	Weak transcription	Lung	lung
2	chr10:6060800-6075800	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:6061200-6070000	Weak transcription	Spleen	Spleen
4	chr10:6066600-6079600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:6066800-6078000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr10:6067000-6070000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr10:6068400-6070800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr10:6068600-6071000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:6069200-6070400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:6069200-6070400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:6069400-6070400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr10:6069600-6070400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr10:6069600-6070800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:6069800-6070000	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:6069800-6070200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr10:6069800-6070200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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