Variant report

Variant	rs10034021
Chromosome Location	chr4:175143944-175143945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:175143891-175143946	GM12878	blood:	n/a	n/a
2	GATA3	chr4:175143748-175144040	SH-SY5Y	brain:	n/a	chr4:175143885-175143895
3	CTCF	chr4:175143254-175144021	A549	lung:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
4	RAD21	chr4:175143206-175144180	SK-N-SH	brain:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
5	CTCF	chr4:175143860-175144010	GM12868	blood:	n/a	n/a
6	CTCF	chr4:175143920-175144070	HVMF	connective:	n/a	n/a
7	RAD21	chr4:175143417-175144072	IMR90	lung:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
8	GATA2	chr4:175143615-175144022	SH-SY5Y	brain:	n/a	chr4:175143885-175143895
9	SMC3	chr4:175143266-175144085	SK-N-SH	brain:	n/a	chr4:175143602-175143616
10	CTCF	chr4:175143334-175144007	K562	blood:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
11	CTCF	chr4:175143193-175144187	SK-N-SH	brain:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611

No.	Distal block	Cell Line	Cell type
1	chr4:175143577..175144084-chr4:175239865..175240621,2	K562	blood:
2	chr4:175143534..175144341-chr4:175180041..175181006,2	MCF-7	breast:
3	chr4:175143195..175144498-chr4:175239947..175241349,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248174	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10520275	1.00[CEU][hapmap]
rs10565	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11133035	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11929798	1.00[CHB][hapmap]
rs11933187	1.00[CHB][hapmap]
rs11942947	1.00[CHB][hapmap]
rs11944262	0.88[CEU][hapmap]
rs11946084	0.89[CEU][hapmap]
rs11946728	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13101580	1.00[CHB][hapmap]
rs13128257	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13150997	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17291087	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17291128	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17291408	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1995749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332836	0.82[CEU][hapmap]
rs41279509	0.82[EUR][1000 genomes]
rs4287982	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs4695915	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4695919	1.00[CHB][hapmap]
rs4695922	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6553777	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6824643	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6851312	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs72702217	0.83[AMR][1000 genomes]
rs7661236	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7669484	1.00[CEU][hapmap];0.81[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10034021	KIAA1712	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175140400-175147200	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:175143600-175146800	Weak transcription	Liver	Liver

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