Variant report

Variant	rs160653
Chromosome Location	chr7:65536780-65536781
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	chr7:65536010..65538329-chr7:65539255..65541774,2	MCF-7	breast:
2	chr7:65534296..65537284-chr7:65539336..65540877,2	K562	blood:

Variant related genes	Relation type
ENSG00000126522	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1039664	0.86[ASN][1000 genomes]
rs1061361	0.86[ASN][1000 genomes]
rs1134256	0.86[ASN][1000 genomes]
rs11538349	0.86[ASN][1000 genomes]
rs1167613	0.88[ASN][1000 genomes]
rs1177514	0.86[ASN][1000 genomes]
rs12698508	0.86[ASN][1000 genomes]
rs12698509	0.86[ASN][1000 genomes]
rs12698511	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13226598	0.86[ASN][1000 genomes]
rs160543	0.96[ASN][1000 genomes]
rs160642	0.96[ASN][1000 genomes]
rs160643	0.96[ASN][1000 genomes]
rs160644	0.96[ASN][1000 genomes]
rs160646	0.96[ASN][1000 genomes]
rs160648	0.96[ASN][1000 genomes]
rs160649	0.94[ASN][1000 genomes]
rs160651	0.88[ASN][1000 genomes]
rs160652	0.90[ASN][1000 genomes]
rs160655	1.00[ASN][1000 genomes]
rs160656	0.96[ASN][1000 genomes]
rs160657	0.96[ASN][1000 genomes]
rs1626926	0.86[ASN][1000 genomes]
rs1701745	0.88[ASN][1000 genomes]
rs1701750	0.88[ASN][1000 genomes]
rs1701758	0.88[ASN][1000 genomes]
rs1701759	0.88[ASN][1000 genomes]
rs1715235	0.88[ASN][1000 genomes]
rs1723265	0.85[ASN][1000 genomes]
rs1723266	0.88[ASN][1000 genomes]
rs1723267	0.88[ASN][1000 genomes]
rs1723269	0.88[ASN][1000 genomes]
rs1723270	0.88[ASN][1000 genomes]
rs1723272	0.88[ASN][1000 genomes]
rs188765	0.90[ASN][1000 genomes]
rs1964692	0.86[ASN][1000 genomes]
rs2177703	0.84[ASN][1000 genomes]
rs2456483	0.88[ASN][1000 genomes]
rs2462569	0.88[ASN][1000 genomes]
rs2637561	0.82[ASN][1000 genomes]
rs2658583	0.88[ASN][1000 genomes]
rs2949697	0.88[ASN][1000 genomes]
rs2961102	0.86[ASN][1000 genomes]
rs3105600	0.86[ASN][1000 genomes]
rs313798	0.88[ASN][1000 genomes]
rs313799	0.88[ASN][1000 genomes]
rs313800	0.86[ASN][1000 genomes]
rs313801	0.99[ASN][1000 genomes]
rs313802	0.99[ASN][1000 genomes]
rs313803	0.99[ASN][1000 genomes]
rs313807	0.90[ASN][1000 genomes]
rs313808	0.90[ASN][1000 genomes]
rs313809	0.90[ASN][1000 genomes]
rs313813	0.91[ASN][1000 genomes]
rs313814	0.93[ASN][1000 genomes]
rs313831	0.96[ASN][1000 genomes]
rs313832	0.96[ASN][1000 genomes]
rs313833	0.96[ASN][1000 genomes]
rs34136756	0.84[ASN][1000 genomes]
rs34193460	0.84[ASN][1000 genomes]
rs34529418	0.86[ASN][1000 genomes]
rs34560516	0.86[ASN][1000 genomes]
rs34577383	0.84[ASN][1000 genomes]
rs34586068	0.82[ASN][1000 genomes]
rs34628538	0.86[ASN][1000 genomes]
rs34804747	0.86[ASN][1000 genomes]
rs34933526	0.84[ASN][1000 genomes]
rs34970380	0.86[ASN][1000 genomes]
rs34983797	0.83[ASN][1000 genomes]
rs35046236	0.86[ASN][1000 genomes]
rs35058610	0.83[ASN][1000 genomes]
rs35087093	0.86[ASN][1000 genomes]
rs35260440	0.85[ASN][1000 genomes]
rs35268390	0.86[ASN][1000 genomes]
rs35310401	0.84[ASN][1000 genomes]
rs35396113	0.88[ASN][1000 genomes]
rs35432774	0.84[ASN][1000 genomes]
rs35542501	0.86[ASN][1000 genomes]
rs35679560	0.84[ASN][1000 genomes]
rs35820085	0.85[ASN][1000 genomes]
rs36004293	0.86[ASN][1000 genomes]
rs36033484	0.84[ASN][1000 genomes]
rs36068983	0.86[ASN][1000 genomes]
rs36084489	0.86[ASN][1000 genomes]
rs383402	0.81[ASN][1000 genomes]
rs392355	0.88[ASN][1000 genomes]
rs402418	0.93[ASN][1000 genomes]
rs403089	0.99[ASN][1000 genomes]
rs423187	0.90[ASN][1000 genomes]
rs427044	0.93[ASN][1000 genomes]
rs431168	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431318	0.92[ASN][1000 genomes]
rs437889	0.93[ASN][1000 genomes]
rs448377	0.88[ASN][1000 genomes]
rs451396	0.88[ASN][1000 genomes]
rs458291	0.96[ASN][1000 genomes]
rs462853	0.96[ASN][1000 genomes]
rs465359	0.96[ASN][1000 genomes]
rs466983	0.99[ASN][1000 genomes]
rs55700941	0.84[ASN][1000 genomes]
rs55876148	0.84[ASN][1000 genomes]
rs55886244	0.86[ASN][1000 genomes]
rs55895244	0.84[ASN][1000 genomes]
rs56016656	0.84[ASN][1000 genomes]
rs56171161	0.84[ASN][1000 genomes]
rs56291018	0.83[ASN][1000 genomes]
rs56955188	0.84[ASN][1000 genomes]
rs56985706	0.84[ASN][1000 genomes]
rs57057549	0.86[ASN][1000 genomes]
rs57126451	0.86[ASN][1000 genomes]
rs58207111	0.88[ASN][1000 genomes]
rs58330502	0.84[ASN][1000 genomes]
rs59794892	0.86[ASN][1000 genomes]
rs59820001	0.83[ASN][1000 genomes]
rs59966766	0.88[ASN][1000 genomes]
rs60683927	0.83[ASN][1000 genomes]
rs67728539	0.84[ASN][1000 genomes]
rs68189316	0.86[ASN][1000 genomes]
rs6949812	0.82[ASN][1000 genomes]
rs6970243	0.84[ASN][1000 genomes]
rs709607	0.86[ASN][1000 genomes]
rs73142162	0.84[ASN][1000 genomes]
rs73142166	0.84[ASN][1000 genomes]
rs73148097	0.86[ASN][1000 genomes]
rs73150014	0.86[ASN][1000 genomes]
rs73150016	0.86[ASN][1000 genomes]
rs7794661	0.84[ASN][1000 genomes]
rs7795242	0.84[ASN][1000 genomes]
rs7806717	0.84[ASN][1000 genomes]
rs781141	0.86[ASN][1000 genomes]
rs781142	0.86[ASN][1000 genomes]
rs781149	0.88[ASN][1000 genomes]
rs781150	0.88[ASN][1000 genomes]
rs781153	0.88[ASN][1000 genomes]
rs781154	0.88[ASN][1000 genomes]
rs781155	0.86[ASN][1000 genomes]
rs781156	0.88[ASN][1000 genomes]
rs781157	0.88[ASN][1000 genomes]
rs906134	0.86[ASN][1000 genomes]
rs937108	0.86[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs160653	GUSB	cis	Whole Blood	GTEx
rs160653	VKORC1L1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65531200-65537600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:65534800-65540400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:65535400-65537600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:65535600-65540400	Weak transcription	NHDF-Ad	bronchial
5	chr7:65535800-65540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:65535800-65540400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:65536200-65536800	Enhancers	K562	blood
8	chr7:65536400-65537800	Enhancers	HepG2	liver
9	chr7:65536600-65537400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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