Variant report

Variant	rs17291128
Chromosome Location	chr4:175151189-175151190
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175150232..175152098-chr4:175163366..175165788,2	MCF-7	breast:
2	chr4:175150055..175152433-chr4:175204757..175206764,2	K562	blood:
3	chr4:175150650..175152595-chr4:175157441..175159670,2	K562	blood:

Variant related genes	Relation type
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10034021	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10520275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10565	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11939946	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11944262	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11946084	0.89[CEU][hapmap]
rs13128257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130276	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13150997	0.82[EUR][1000 genomes]
rs1508222	0.86[ASN][1000 genomes]
rs17291087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17291408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357120	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1995749	0.82[EUR][1000 genomes]
rs2332836	0.82[CEU][hapmap]
rs41279509	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4287982	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs4695915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695922	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6553777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68084371	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6824643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702217	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7661236	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17291128	CEP44	cis	Thyroid	GTEx
rs17291128	KIAA1712	cis	multi-tissue	Pritchard

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175146600-175158000	Weak transcription	Placenta	Placenta
2	chr4:175147000-175157000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:175147000-175157200	Weak transcription	Liver	Liver
4	chr4:175147000-175163000	Weak transcription	Fetal Stomach	stomach
5	chr4:175147600-175157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
7	chr4:175149200-175158400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:175149600-175158000	Weak transcription	Adipose Nuclei	Adipose
9	chr4:175151000-175163200	Weak transcription	Colon Smooth Muscle	Colon

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