Variant report

Variant	rs1014725
Chromosome Location	chr7:112050858-112050859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:112050499-112051895	A549	lung:	n/a	chr7:112051633-112051642
2	CTCF	chr7:112050711-112051887	SK-N-SH	brain:	n/a	chr7:112051633-112051642
3	CTCF	chr7:112050800-112050950	HPAF	blood vessel:	n/a	n/a
4	JUND	chr7:112049554-112051862	SK-N-SH	brain:	n/a	n/a
5	SMC3	chr7:112050105-112051862	SK-N-SH	brain:	n/a	chr7:112050653-112050661
6	RAD21	chr7:112050034-112052306	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:112049730..112052171-chr7:112053926..112056276,3	K562	blood:
2	chr7:112045125..112048422-chr7:112049738..112053855,5	K562	blood:
3	chr7:111494801..111495981-chr7:112050100..112051106,3	MCF-7	breast:
4	chr7:112050573..112053136-chr7:112089164..112091552,2	MCF-7	breast:
5	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
6	chr7:112050774..112053695-chr7:112073947..112076333,2	K562	blood:
7	chr7:112049693..112052446-chr7:112089375..112092902,3	K562	blood:
8	chr7:111592856..111595719-chr7:112049563..112051825,3	MCF-7	breast:
9	chr7:112045125..112047686-chr7:112049738..112051786,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226851	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000222346	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1007587	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215841	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs10227934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234996	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	1.00[EUR][1000 genomes]
rs10238838	1.00[EUR][1000 genomes]
rs10238839	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243086	1.00[ASN][1000 genomes]
rs10244575	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	1.00[EUR][1000 genomes]
rs10249330	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	1.00[CEU][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252768	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10253360	0.84[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257492	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257850	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	1.00[CEU][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275709	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	1.00[EUR][1000 genomes]
rs10276868	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	1.00[EUR][1000 genomes]
rs10278642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159423	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040726	1.00[EUR][1000 genomes]
rs2214434	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321927	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730521	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730523	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730531	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4730534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730545	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60046006	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943924	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948649	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	1.00[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965959	0.87[EUR][1000 genomes]
rs6973251	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975374	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977379	1.00[ASN][1000 genomes]
rs726422	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886351	1.00[ASN][1000 genomes]
rs886352	1.00[ASN][1000 genomes]
rs9986709	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986983	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:112049600-112051200	Enhancers	Fetal Lung	lung
4	chr7:112050000-112051400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:112050200-112051800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:112050400-112051400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:112050600-112051400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:112050600-112051600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:112050600-112051600	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:112050600-112052800	Enhancers	HepG2	liver
11	chr7:112050800-112051000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:112050800-112051400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:112050800-112051600	Enhancers	Duodenum Smooth Muscle	Duodenum

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