Variant report

Variant	rs7217548
Chromosome Location	chr17:63216880-63216881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63215587..63218339-chr17:63218800..63221692,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10514867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11650746	0.80[ASN][1000 genomes]
rs11651062	0.80[ASN][1000 genomes]
rs11654243	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11657250	0.80[ASN][1000 genomes]
rs11658655	0.80[ASN][1000 genomes]
rs11658673	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11658773	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1514500	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16960828	1.00[EUR][1000 genomes]
rs16960834	1.00[EUR][1000 genomes]
rs16960903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16960905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16960920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16960957	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16961015	1.00[CHB][hapmap]
rs16961273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs16961446	1.00[EUR][1000 genomes]
rs16961700	1.00[EUR][1000 genomes]
rs16962050	1.00[EUR][1000 genomes]
rs2109447	1.00[EUR][1000 genomes]
rs2137976	1.00[EUR][1000 genomes]
rs28451574	0.93[ASN][1000 genomes]
rs28525077	0.93[ASN][1000 genomes]
rs2869578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2869579	0.80[ASN][1000 genomes]
rs2869580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2869582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2869584	0.80[ASN][1000 genomes]
rs2869585	0.80[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2869587	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2904133	0.93[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs378764	1.00[EUR][1000 genomes]
rs385608	1.00[EUR][1000 genomes]
rs4129027	1.00[EUR][1000 genomes]
rs4293415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4588019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4791223	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4791227	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55847515	1.00[ASN][1000 genomes]
rs55944145	1.00[EUR][1000 genomes]
rs55948632	0.93[ASN][1000 genomes]
rs55948933	0.80[ASN][1000 genomes]
rs55963637	1.00[EUR][1000 genomes]
rs55990302	1.00[EUR][1000 genomes]
rs56081678	1.00[EUR][1000 genomes]
rs56264686	1.00[EUR][1000 genomes]
rs56719687	1.00[EUR][1000 genomes]
rs56818563	1.00[EUR][1000 genomes]
rs57088441	1.00[EUR][1000 genomes]
rs57311249	1.00[EUR][1000 genomes]
rs57411829	1.00[EUR][1000 genomes]
rs57859065	1.00[EUR][1000 genomes]
rs58606080	1.00[EUR][1000 genomes]
rs59024552	1.00[EUR][1000 genomes]
rs59173947	0.93[ASN][1000 genomes]
rs59203896	1.00[EUR][1000 genomes]
rs59400153	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60051589	1.00[EUR][1000 genomes]
rs60264965	1.00[EUR][1000 genomes]
rs60320143	1.00[EUR][1000 genomes]
rs60568462	1.00[EUR][1000 genomes]
rs61070431	1.00[EUR][1000 genomes]
rs61534937	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61708414	0.93[ASN][1000 genomes]
rs6504283	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6504284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504285	0.94[AFR][1000 genomes]
rs6504286	1.00[EUR][1000 genomes]
rs7215502	0.80[ASN][1000 genomes]
rs7217524	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7218518	1.00[CHB][hapmap];1.00[JPT][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]
rs7220188	1.00[EUR][1000 genomes]
rs7220710	0.80[ASN][1000 genomes]
rs7220949	0.80[ASN][1000 genomes]
rs7221103	0.80[ASN][1000 genomes]
rs7223308	1.00[EUR][1000 genomes]
rs73330407	0.86[ASN][1000 genomes]
rs73349122	1.00[EUR][1000 genomes]
rs73994750	1.00[EUR][1000 genomes]
rs73994752	1.00[EUR][1000 genomes]
rs73994754	1.00[EUR][1000 genomes]
rs73994756	1.00[EUR][1000 genomes]
rs73994757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994760	1.00[EUR][1000 genomes]
rs73994761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994767	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994771	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994772	1.00[EUR][1000 genomes]
rs73994774	1.00[EUR][1000 genomes]
rs73994782	1.00[EUR][1000 genomes]
rs73994788	1.00[EUR][1000 genomes]
rs73994790	1.00[EUR][1000 genomes]
rs73994792	1.00[EUR][1000 genomes]
rs73994793	1.00[EUR][1000 genomes]
rs7503762	1.00[EUR][1000 genomes]
rs8065438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065444	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066063	1.00[CHB][hapmap];1.00[JPT][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]
rs8066072	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066092	1.00[EUR][1000 genomes]
rs8066191	1.00[EUR][1000 genomes]
rs8068016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071641	1.00[EUR][1000 genomes]
rs8072633	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs8073544	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8073716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074507	1.00[EUR][1000 genomes]
rs8077510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077956	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078298	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078885	1.00[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8080929	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs908089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs925674	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs954496	1.00[EUR][1000 genomes]
rs9889653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9898825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9900568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9900709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9901108	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9904207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9907146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9907374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9908359	1.00[CHB][hapmap]
rs9914418	0.80[ASN][1000 genomes]
rs9914790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9916092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9916789	0.80[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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv482610	chr17:63214370-63372334	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63199000-63217200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:63209200-63218800	Weak transcription	Brain Anterior Caudate	brain
4	chr17:63216200-63218600	Enhancers	HSMM	muscle
5	chr17:63216400-63217000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr17:63216400-63217000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:63216400-63217200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:63216400-63217200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr17:63216400-63217200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:63216400-63217400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:63216600-63217000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr17:63216600-63217000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:63216600-63217200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:63216600-63217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:63216600-63217400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:63216600-63217400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:63216600-63217600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:63216600-63218200	Weak transcription	Brain Substantia Nigra	brain
19	chr17:63216600-63218200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:63216800-63217000	Flanking Active TSS	HSMMtube	muscle
21	chr17:63216800-63217200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr17:63216800-63217200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:63216800-63217200	Enhancers	NH-A	brain
24	chr17:63216800-63217400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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