Variant report

Variant	rs10113750
Chromosome Location	chr8:59464692-59464693
allele	C/T
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	GATA3	chr8:59464675-59464823	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr8:59464610-59469465	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:59464567..59467546-chr8:59474944..59480287,7	MCF-7	breast:
2	chr8:59463736..59468207-chr8:59482369..59488045,4	K562	blood:
3	chr8:59464523..59466345-chr8:59503286..59506269,2	K562	blood:

Variant related genes	Relation type
SDCBP	TF binding region
ENSG00000035681	Chromatin interaction
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10085973	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090425	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10092359	0.87[EUR][1000 genomes]
rs10094910	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099153	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099240	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099912	0.95[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100873	0.88[EUR][1000 genomes]
rs10102709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10104292	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.88[ASN][1000 genomes]
rs10104568	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs10106272	0.82[EUR][1000 genomes]
rs10110065	0.84[EUR][1000 genomes]
rs10110111	0.95[EUR][1000 genomes]
rs10111052	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10111506	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1023649	0.82[CHB][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs1023650	0.82[CHB][hapmap]
rs10504256	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1050488	0.95[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs1050504	0.95[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs1125226	0.82[CHB][hapmap]
rs11775194	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs11776003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782455	0.83[CEU][hapmap]
rs11783174	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12335008	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542233	0.86[CHB][hapmap]
rs12543344	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs12674568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12676593	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12677290	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.88[ASN][1000 genomes]
rs12678669	0.87[EUR][1000 genomes]
rs12679938	0.88[TSI][hapmap]
rs12680104	0.94[EUR][1000 genomes]
rs12680996	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1427162	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs1457043	0.86[CHB][hapmap]
rs1582824	0.82[CHB][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap]
rs16923562	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16923564	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17263989	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17272151	0.81[TSI][hapmap]
rs1976162	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs1991359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2162459	0.86[CHB][hapmap]
rs2279460	0.83[CEU][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap]
rs2279462	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs2634527	0.85[GIH][hapmap]
rs28429491	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28650441	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28656336	0.89[EUR][1000 genomes]
rs28809811	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3739327	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808609	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3816846	0.83[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap]
rs3903445	0.82[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap]
rs4282557	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4400366	0.90[ASN][1000 genomes]
rs4400367	0.95[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4579515	0.83[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55774738	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59979442	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471731	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984439	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs6986129	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6995115	0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs7009248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7009374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011095	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014398	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647424	0.84[EUR][1000 genomes]
rs72647425	0.83[EUR][1000 genomes]
rs72647434	0.90[EUR][1000 genomes]
rs72647435	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7817515	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825996	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7826122	0.83[CEU][hapmap]
rs7827910	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7833904	0.82[CHB][hapmap]
rs7840932	0.88[ASN][1000 genomes]
rs7843989	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7844231	0.83[CEU][hapmap]
rs8192871	0.86[CHB][hapmap]
rs9297995	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297996	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9297997	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9297998	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.90[ASN][1000 genomes]
rs9297999	0.95[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59456200-59465000	Weak transcription	Adipose Nuclei	Adipose
3	chr8:59458800-59465000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:59461400-59465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:59461600-59465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:59462400-59465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:59464600-59468200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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