Variant report

Variant	rs6471280
Chromosome Location	chr8:87346524-87346525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87345448..87347466-chr8:87354600..87357045,2	MCF-7	breast:
2	chr8:87341012..87343930-chr8:87343951..87346543,2	MCF-7	breast:
3	chr8:87300561..87303014-chr8:87346498..87348749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10088739	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10089781	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10093238	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10095129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10095498	0.82[JPT][hapmap]
rs10095537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10096443	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10103691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10107072	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10956800	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10956803	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10956853	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1142528	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11775728	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11781016	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs11787036	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11787318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11997234	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12543856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs12543887	0.81[ASN][1000 genomes]
rs12544731	0.85[JPT][hapmap]
rs12547467	0.88[CEU][hapmap]
rs13042	0.82[JPT][hapmap]
rs13249753	0.82[JPT][hapmap]
rs13251647	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17608598	0.85[ASN][1000 genomes]
rs17608967	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17681618	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34895735	0.81[ASN][1000 genomes]
rs3883910	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4285463	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4484676	0.86[JPT][hapmap]
rs4567013	0.88[CEU][hapmap];0.82[YRI][hapmap]
rs4581032	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4587306	0.82[JPT][hapmap]
rs4961172	0.88[CEU][hapmap]
rs4961175	0.88[CEU][hapmap]
rs4961187	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961189	0.81[EUR][1000 genomes]
rs4961190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4961193	0.82[JPT][hapmap]
rs4961194	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961196	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5024450	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5025329	0.92[CEU][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap]
rs55727343	0.83[ASN][1000 genomes]
rs55807259	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56096624	0.81[ASN][1000 genomes]
rs56122638	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56268675	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs56395805	0.82[ASN][1000 genomes]
rs57644875	0.84[ASN][1000 genomes]
rs60935442	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62509414	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62509419	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62509421	0.86[ASN][1000 genomes]
rs6415565	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6471273	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471279	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6471281	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6471296	0.82[JPT][hapmap]
rs6471309	0.82[JPT][hapmap]
rs6471352	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6471354	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6471360	0.82[JPT][hapmap]
rs6983925	0.82[JPT][hapmap]
rs6994005	0.84[JPT][hapmap]
rs6996052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6999654	0.85[JPT][hapmap]
rs7003059	0.82[JPT][hapmap]
rs7006017	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7006629	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7015490	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7017716	0.82[JPT][hapmap]
rs7017719	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs71503461	0.87[ASN][1000 genomes]
rs72688540	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7459811	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7459897	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7460028	0.96[ASN][1000 genomes]
rs7460286	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7460439	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7461624	0.85[JPT][hapmap]
rs7461767	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7462727	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7465350	0.85[JPT][hapmap]
rs7465511	0.82[JPT][hapmap]
rs7819454	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7820697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7823154	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs7824469	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7825405	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7830128	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7837569	0.82[JPT][hapmap]
rs7838007	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9283961	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9642913	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6471280	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs6471280	FAM82B	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87343400-87354000	Weak transcription	Right Atrium	heart
2	chr8:87346000-87346800	Enhancers	Liver	Liver
3	chr8:87346400-87347000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:87346400-87347000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:87346400-87347000	Enhancers	NHEK	skin
6	chr8:87346400-87347800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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