Variant report

Variant	rs2953511
Chromosome Location	chr8:87340870-87340871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10085920	0.95[CEU][hapmap]
rs10086340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs10093238	0.82[JPT][hapmap]
rs10093729	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10095129	0.82[JPT][hapmap]
rs10095498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10096443	0.82[JPT][hapmap]
rs10097450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10098356	0.88[EUR][1000 genomes]
rs10103691	0.80[JPT][hapmap]
rs10112123	0.95[CEU][hapmap]
rs10435563	0.95[CEU][hapmap]
rs10956830	0.91[EUR][1000 genomes]
rs11775728	0.82[JPT][hapmap]
rs11992656	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12541793	0.83[EUR][1000 genomes]
rs12546802	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs12548328	0.88[CEU][hapmap];0.81[YRI][hapmap]
rs12549332	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12550142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs12678720	0.85[EUR][1000 genomes]
rs12678772	0.85[EUR][1000 genomes]
rs12679811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs13042	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13249753	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13251006	0.82[EUR][1000 genomes]
rs13253261	0.83[EUR][1000 genomes]
rs13253296	0.83[EUR][1000 genomes]
rs13253515	0.83[EUR][1000 genomes]
rs13254675	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13256500	0.91[CEU][hapmap]
rs13256765	0.85[EUR][1000 genomes]
rs13258126	0.85[EUR][1000 genomes]
rs13262672	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13263353	0.86[CEU][hapmap]
rs13264364	0.83[EUR][1000 genomes]
rs13267782	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs13269259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs13273338	0.85[EUR][1000 genomes]
rs13280468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13281414	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs1436628	0.95[CEU][hapmap];0.80[YRI][hapmap]
rs28378899	0.89[EUR][1000 genomes]
rs28561640	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2917557	0.95[CEU][hapmap];0.83[YRI][hapmap]
rs2953509	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2953510	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2953516	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2953517	0.83[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2976177	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2976178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2976179	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2976181	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2976201	0.83[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34227066	0.85[EUR][1000 genomes]
rs34794500	0.85[EUR][1000 genomes]
rs4129535	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs41469550	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4282548	0.95[CEU][hapmap];0.83[YRI][hapmap]
rs4310184	0.95[CEU][hapmap]
rs4379426	0.92[EUR][1000 genomes]
rs4379427	0.84[EUR][1000 genomes]
rs4464946	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4490816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4587306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4623392	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4961193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961194	0.82[JPT][hapmap]
rs4961195	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961196	0.81[JPT][hapmap]
rs4961197	0.91[CEU][hapmap]
rs6415565	0.82[JPT][hapmap]
rs6471296	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471314	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6471316	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6471354	0.81[JPT][hapmap]
rs6471360	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6651267	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs67123356	0.85[EUR][1000 genomes]
rs6985066	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs6985427	0.95[CEU][hapmap]
rs6992287	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6992944	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6996052	0.82[JPT][hapmap]
rs7003059	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7006017	0.82[JPT][hapmap]
rs7006629	0.82[JPT][hapmap]
rs7007855	0.91[EUR][1000 genomes]
rs7015490	0.82[JPT][hapmap]
rs7017706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7017716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7017719	0.82[JPT][hapmap]
rs7460286	0.82[JPT][hapmap]
rs7460439	0.82[JPT][hapmap]
rs7461413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7465046	0.82[ASN][1000 genomes]
rs7465511	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7816275	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7820234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7820697	0.81[JPT][hapmap]
rs7830480	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7832493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833049	0.85[EUR][1000 genomes]
rs7837569	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7839601	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7841690	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7846090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs9283958	0.95[CEU][hapmap];0.80[YRI][hapmap]
rs9297861	0.95[CEU][hapmap]
rs9942792	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs9942823	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2953511	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs2953511	FAM82B	cis	lesional skin	skin_eQTL
rs2953511	RMDN1	cis	Whole Blood	GTEx
rs2953511	RMDN1	cis	Nerve Tibial	GTEx
rs2953511	FAM82B	cis	Brain Pons	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87334800-87346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:87339600-87342600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:87340800-87341000	Enhancers	Adipose Nuclei	Adipose
4	chr8:87340800-87346000	Weak transcription	Liver	Liver

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