Variant report

Variant	rs2243680
Chromosome Location	chr12:104291595-104291596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:104291566-104291942	T-47D	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104291534..104293159-chr12:104297953..104300433,2	K562	blood:
2	chr12:104290265..104292950-chr12:104322949..104324909,2	K562	blood:
3	chr12:104291172..104293021-chr12:104296690..104298441,2	K562	blood:
4	chr12:104290392..104292773-chr12:104312666..104315584,2	K562	blood:
5	chr12:104289438..104292235-chr12:104295462..104297467,2	K562	blood:
6	chr12:104290617..104292950-chr12:104323409..104325905,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11111861	1.00[ASN][1000 genomes]
rs1125322	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611650	1.00[ASN][1000 genomes]
rs1165666	0.81[YRI][hapmap]
rs1165672	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165677	0.81[YRI][hapmap]
rs1165678	0.81[YRI][hapmap]
rs1165682	0.81[YRI][hapmap]
rs1183212	0.81[YRI][hapmap]
rs12825687	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385663	1.00[ASN][1000 genomes]
rs167715	1.00[ASN][1000 genomes]
rs167716	1.00[ASN][1000 genomes]
rs1866070	0.81[YRI][hapmap]
rs1882018	1.00[ASN][1000 genomes]
rs2248995	0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs2251215	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2252213	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255887	0.85[CEU][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2374327	1.00[ASN][1000 genomes]
rs2439621	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576943	1.00[ASN][1000 genomes]
rs2583224	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583225	1.00[ASN][1000 genomes]
rs2583233	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583234	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583235	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2583237	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583244	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583258	1.00[ASN][1000 genomes]
rs2583274	1.00[ASN][1000 genomes]
rs2583278	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629750	1.00[ASN][1000 genomes]
rs2700494	1.00[ASN][1000 genomes]
rs2700507	1.00[ASN][1000 genomes]
rs2700517	1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	1.00[ASN][1000 genomes]
rs2722187	0.84[AFR][1000 genomes]
rs2722194	1.00[ASN][1000 genomes]
rs2723849	1.00[ASN][1000 genomes]
rs2723850	1.00[ASN][1000 genomes]
rs2723853	1.00[ASN][1000 genomes]
rs322104	1.00[ASN][1000 genomes]
rs322109	1.00[ASN][1000 genomes]
rs35140616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135039	1.00[ASN][1000 genomes]
rs4135040	1.00[ASN][1000 genomes]
rs4135047	1.00[ASN][1000 genomes]
rs4135048	1.00[ASN][1000 genomes]
rs4135050	1.00[ASN][1000 genomes]
rs4135061	1.00[ASN][1000 genomes]
rs4135062	1.00[ASN][1000 genomes]
rs4135066	1.00[ASN][1000 genomes]
rs784080	0.81[TSI][hapmap]
rs784084	1.00[ASN][1000 genomes]
rs931306	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2243680	KIAA1033	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104284600-104294200	Weak transcription	Thymus	Thymus
3	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain

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