Variant report

Variant	rs4730531
Chromosome Location	chr7:111992259-111992260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1007587	1.00[CEU][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10215841	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10225540	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs10227934	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	1.00[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs10234996	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	1.00[CEU][hapmap]
rs10238838	1.00[CEU][hapmap]
rs10238839	1.00[CEU][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10243086	1.00[ASN][1000 genomes]
rs10244575	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	0.93[AMR][1000 genomes]
rs10249330	1.00[ASN][1000 genomes]
rs10249953	1.00[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10252768	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs10253360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10257492	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10257850	1.00[ASN][1000 genomes]
rs10258413	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	1.00[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10275709	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10276868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	1.00[ASN][1000 genomes]
rs10277444	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	0.93[AMR][1000 genomes]
rs10278642	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	1.00[ASN][1000 genomes]
rs10487289	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17159423	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	1.00[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17159613	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17159615	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1989940	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2040726	1.00[CEU][hapmap]
rs2214434	1.00[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2396535	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2729540	1.00[ASN][1000 genomes]
rs2729543	1.00[ASN][1000 genomes]
rs2729545	1.00[ASN][1000 genomes]
rs2729546	1.00[ASN][1000 genomes]
rs2729548	1.00[ASN][1000 genomes]
rs28402908	1.00[ASN][1000 genomes]
rs28407071	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	1.00[ASN][1000 genomes]
rs28563007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	1.00[ASN][1000 genomes]
rs28594984	1.00[ASN][1000 genomes]
rs28602472	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	1.00[ASN][1000 genomes]
rs28718033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	1.00[ASN][1000 genomes]
rs4321927	1.00[ASN][1000 genomes]
rs4392819	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4727767	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	1.00[ASN][1000 genomes]
rs4730514	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4730515	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs4730521	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730523	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	1.00[CEU][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730534	1.00[ASN][1000 genomes]
rs4730535	1.00[ASN][1000 genomes]
rs4730537	1.00[ASN][1000 genomes]
rs4730538	1.00[ASN][1000 genomes]
rs4730545	1.00[ASN][1000 genomes]
rs4730546	1.00[ASN][1000 genomes]
rs57771476	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60046006	1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6943924	1.00[ASN][1000 genomes]
rs6948649	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs6950367	1.00[ASN][1000 genomes]
rs6954131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6973251	1.00[ASN][1000 genomes]
rs6975374	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	1.00[ASN][1000 genomes]
rs6977379	1.00[ASN][1000 genomes]
rs726422	1.00[ASN][1000 genomes]
rs73424453	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs886351	1.00[ASN][1000 genomes]
rs886352	1.00[ASN][1000 genomes]
rs9986709	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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111982800-111997000	Weak transcription	HepG2	liver
3	chr7:111983800-111993200	Weak transcription	Fetal Heart	heart
4	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
5	chr7:111984200-111993200	Weak transcription	HSMMtube	muscle
6	chr7:111984400-111993200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:111986400-111997000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:111987800-112000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:111992200-111992400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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