Variant report

Variant	rs160651
Chromosome Location	chr7:65538775-65538776
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	chr7:65536863..65539073-chr7:65564586..65566634,2	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs1039664	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1061361	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10807699	0.82[AMR][1000 genomes]
rs1134256	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11538349	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1167613	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1177514	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12698508	0.84[EUR][1000 genomes]
rs12698509	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13226598	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13233662	0.81[EUR][1000 genomes]
rs13247184	0.81[EUR][1000 genomes]
rs13308751	0.89[AMR][1000 genomes]
rs160543	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160637	0.91[AMR][1000 genomes]
rs160638	0.91[AMR][1000 genomes]
rs160639	0.89[AMR][1000 genomes]
rs160642	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160643	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160644	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160646	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160652	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs160653	0.88[ASN][1000 genomes]
rs160655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs160656	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160657	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1626926	0.87[AMR][1000 genomes]
rs1701745	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1701750	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1701758	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1701759	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1715235	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1723265	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1723266	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1723267	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1723269	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1723270	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1723272	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs182600	0.91[AMR][1000 genomes]
rs186378	0.91[AMR][1000 genomes]
rs188765	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1964692	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2243480	0.87[AMR][1000 genomes]
rs2257790	0.86[AMR][1000 genomes]
rs2420171	0.84[AMR][1000 genomes]
rs2420172	0.84[AMR][1000 genomes]
rs2456483	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2460422	0.87[AMR][1000 genomes]
rs2460425	0.87[AMR][1000 genomes]
rs2460426	0.87[AMR][1000 genomes]
rs2460431	0.87[AMR][1000 genomes]
rs2462569	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2465120	0.87[AMR][1000 genomes]
rs2637561	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2658583	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2949697	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2961102	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3105600	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs313798	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs313799	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs313800	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs313801	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313802	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313803	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313807	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs313808	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs313809	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs313813	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs313814	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs313819	0.91[AMR][1000 genomes]
rs313820	0.91[AMR][1000 genomes]
rs313822	0.91[AMR][1000 genomes]
rs313824	0.91[AMR][1000 genomes]
rs313831	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs313832	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs313833	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316304	0.87[AMR][1000 genomes]
rs316307	0.91[AMR][1000 genomes]
rs316313	0.91[AMR][1000 genomes]
rs316314	0.91[AMR][1000 genomes]
rs316315	0.84[AMR][1000 genomes]
rs316317	0.87[AMR][1000 genomes]
rs316318	0.87[AMR][1000 genomes]
rs316321	0.87[AMR][1000 genomes]
rs316322	0.87[AMR][1000 genomes]
rs316325	0.87[AMR][1000 genomes]
rs316326	0.87[AMR][1000 genomes]
rs316327	0.87[AMR][1000 genomes]
rs316329	0.87[AMR][1000 genomes]
rs316331	0.87[AMR][1000 genomes]
rs316332	0.82[AMR][1000 genomes]
rs316333	0.84[AMR][1000 genomes]
rs316334	0.87[AMR][1000 genomes]
rs34032527	0.91[AMR][1000 genomes]
rs34193460	0.81[EUR][1000 genomes]
rs34529418	0.82[EUR][1000 genomes]
rs34560516	0.84[EUR][1000 genomes]
rs34628538	0.81[EUR][1000 genomes]
rs34804747	0.82[EUR][1000 genomes]
rs34970380	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35046236	0.82[EUR][1000 genomes]
rs35087093	0.82[EUR][1000 genomes]
rs35257008	0.81[EUR][1000 genomes]
rs35260440	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35268390	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35283677	0.81[EUR][1000 genomes]
rs35396113	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35421653	0.81[EUR][1000 genomes]
rs35542501	0.86[AMR][1000 genomes]
rs35679560	0.87[AMR][1000 genomes]
rs35689884	0.81[EUR][1000 genomes]
rs35820085	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36004293	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36033484	0.81[EUR][1000 genomes]
rs36068983	0.82[EUR][1000 genomes]
rs36084489	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36127118	0.86[AMR][1000 genomes]
rs383402	0.91[AMR][1000 genomes]
rs387676	0.87[AMR][1000 genomes]
rs392355	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs402418	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs403089	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4145008	0.80[AMR][1000 genomes]
rs419603	0.87[AMR][1000 genomes]
rs422164	0.91[AMR][1000 genomes]
rs423187	0.93[AMR][1000 genomes]
rs427044	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs431076	0.87[AMR][1000 genomes]
rs431168	0.81[ASN][1000 genomes]
rs431318	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs437889	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs448377	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs451396	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs458291	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs462853	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs465359	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs466983	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4718309	0.87[AMR][1000 genomes]
rs55700941	0.81[EUR][1000 genomes]
rs55876148	0.81[EUR][1000 genomes]
rs55886244	0.87[AMR][1000 genomes]
rs56016656	0.81[EUR][1000 genomes]
rs56133509	0.81[EUR][1000 genomes]
rs56171161	0.84[AMR][1000 genomes]
rs56291018	0.81[EUR][1000 genomes]
rs56955188	0.81[EUR][1000 genomes]
rs57057549	0.84[EUR][1000 genomes]
rs57126451	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58207111	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59794892	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59966766	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6460274	0.87[AMR][1000 genomes]
rs68189316	0.82[EUR][1000 genomes]
rs6966322	0.80[AMR][1000 genomes]
rs6974723	0.84[AMR][1000 genomes]
rs709607	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73136349	0.87[AMR][1000 genomes]
rs73142137	0.81[EUR][1000 genomes]
rs73142162	0.81[EUR][1000 genomes]
rs73142166	0.81[EUR][1000 genomes]
rs73148097	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73150014	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7787230	0.87[AMR][1000 genomes]
rs780453	0.91[AMR][1000 genomes]
rs781141	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs781142	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs781149	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781150	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781153	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781154	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781155	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781156	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781157	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs906134	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs937108	0.87[AMR][1000 genomes]
rs958550	0.84[AMR][1000 genomes]
rs9769882	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs160651	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs160651	GUSB	cis	Whole Blood	GTEx
rs160651	VKORC1L1	cis	Whole Blood	GTEx
rs160651	RP4-756H11.3	cis	lung	GTEx
rs160651	ASL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65534800-65540400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:65535600-65540400	Weak transcription	NHDF-Ad	bronchial
3	chr7:65535800-65540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:65535800-65540400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:65536800-65540200	Weak transcription	K562	blood
6	chr7:65537600-65540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:65537600-65540200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:65537800-65538800	Weak transcription	HepG2	liver
9	chr7:65537800-65539000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:65537800-65540200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:65537800-65540400	Weak transcription	Fetal Thymus	thymus

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