Variant report

Variant	rs10252911
Chromosome Location	chr7:120561767-120561768
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120546933..120548726-chr7:120560234..120561928,2	K562	blood:
2	chr7:120561701..120564148-chr7:120589396..120591165,2	K562	blood:
3	chr7:120561701..120564272-chr7:120589512..120592195,3	K562	blood:
4	chr7:120561753..120563679-chr7:120747463..120748993,2	K562	blood:
5	chr7:120555523..120558185-chr7:120561718..120564428,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10225453	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs10238554	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10257297	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10257475	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261886	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs10266755	0.84[CHB][hapmap]
rs10272601	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10274689	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs10282072	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953922	0.89[ASN][1000 genomes]
rs12154992	1.00[CEU][hapmap]
rs13438082	0.89[ASN][1000 genomes]
rs1557857	0.87[ASN][1000 genomes]
rs17132716	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs17142995	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs17143055	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1859316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1859318	0.87[ASN][1000 genomes]
rs1859319	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2040762	0.84[ASN][1000 genomes]
rs2074577	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs2097806	0.86[CHB][hapmap]
rs2107276	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2189452	0.80[CHB][hapmap]
rs2244863	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs2244865	0.85[CHB][hapmap]
rs2248890	0.90[CHB][hapmap]
rs2524951	0.85[ASN][1000 genomes]
rs2525705	0.87[ASN][1000 genomes]
rs2525708	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525709	0.89[ASN][1000 genomes]
rs2525712	0.85[CHB][hapmap]
rs2525713	0.85[CHB][hapmap]
rs2525743	0.89[ASN][1000 genomes]
rs2721339	0.81[ASN][1000 genomes]
rs2721341	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2721347	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2721354	0.90[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2721363	0.85[CHB][hapmap]
rs2721364	0.84[ASN][1000 genomes]
rs2721367	0.84[CHB][hapmap]
rs3757556	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3757557	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap]
rs3779386	1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs3779387	1.00[CEU][hapmap];0.80[CHB][hapmap]
rs3779388	0.80[CHB][hapmap]
rs3779389	0.80[CHB][hapmap]
rs3823859	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3823861	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4141301	1.00[CEU][hapmap];0.82[ASN][1000 genomes]
rs4141309	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap]
rs41624	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs41629	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs41632	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs41688	0.80[CHB][hapmap]
rs41690	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs4461820	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs59189516	0.82[ASN][1000 genomes]
rs59790582	0.83[ASN][1000 genomes]
rs60612048	0.82[ASN][1000 genomes]
rs61452531	0.84[ASN][1000 genomes]
rs6466759	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6466760	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6466761	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6466762	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6953454	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6959328	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6964344	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971854	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6975372	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs6979247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs714259	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs732568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427805	0.84[ASN][1000 genomes]
rs73429803	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs745167	0.89[ASN][1000 genomes]
rs7776721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7781985	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7800318	0.83[ASN][1000 genomes]
rs9649429	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs996903	0.85[CHB][hapmap];0.86[JPT][hapmap]

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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv437030	chr7:120550667-120562313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120556000-120567200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:120561400-120561800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:120561600-120561800	Enhancers	Fetal Heart	heart

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