Variant report

Variant	rs2976181
Chromosome Location	chr8:87344470-87344471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87338119..87339935-chr8:87342418..87344474,2	MCF-7	breast:
2	chr8:87341012..87343930-chr8:87343951..87346543,2	MCF-7	breast:
3	chr8:87343507..87346048-chr8:87352479..87354263,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10085920	0.91[CEU][hapmap]
rs10086340	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap]
rs10087788	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap]
rs10088739	0.82[JPT][hapmap]
rs10093238	0.82[JPT][hapmap]
rs10093729	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10095129	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs10095498	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10096168	0.82[JPT][hapmap]
rs10096443	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs10097450	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10103691	0.84[JPT][hapmap]
rs10112123	0.91[CEU][hapmap]
rs10435563	0.91[CEU][hapmap]
rs10956800	0.80[JPT][hapmap]
rs10956830	0.82[EUR][1000 genomes]
rs10956853	0.82[JPT][hapmap]
rs11775728	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs11787318	0.82[JPT][hapmap]
rs11992656	0.86[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12543856	0.82[JPT][hapmap]
rs12546802	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12548328	0.82[CEU][hapmap]
rs12549332	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550142	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12679811	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13042	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs13249753	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs13251647	0.82[JPT][hapmap]
rs13254675	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13256500	0.86[CEU][hapmap]
rs13262672	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13263353	0.82[CEU][hapmap]
rs13267782	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13269259	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13280468	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13281414	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1436628	0.91[CEU][hapmap]
rs17608967	0.82[JPT][hapmap]
rs28378899	0.82[EUR][1000 genomes]
rs28561640	0.82[EUR][1000 genomes]
rs2917557	0.91[CEU][hapmap]
rs2953509	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2953510	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2953511	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2953516	0.97[ASN][1000 genomes]
rs2953517	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2976177	0.97[ASN][1000 genomes]
rs2976178	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2976179	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2976201	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3883910	0.82[JPT][hapmap]
rs4129535	0.86[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs41469550	0.83[EUR][1000 genomes]
rs4282548	0.91[CEU][hapmap]
rs4285463	0.82[JPT][hapmap]
rs4310184	0.90[CEU][hapmap]
rs4379426	0.83[EUR][1000 genomes]
rs4464946	0.97[ASN][1000 genomes]
rs4490816	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4587306	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4623392	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4961188	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961190	0.82[JPT][hapmap]
rs4961193	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs4961194	0.82[JPT][hapmap]
rs4961195	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961196	0.81[JPT][hapmap]
rs4961197	0.86[CEU][hapmap]
rs6415565	0.82[JPT][hapmap]
rs6471273	0.82[JPT][hapmap]
rs6471280	0.82[JPT][hapmap]
rs6471296	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471309	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471314	0.85[EUR][1000 genomes]
rs6471316	0.83[EUR][1000 genomes]
rs6471352	0.82[JPT][hapmap]
rs6471354	0.85[JPT][hapmap]
rs6471360	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs6651267	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs6985066	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap]
rs6985427	0.91[CEU][hapmap]
rs6992287	0.83[EUR][1000 genomes]
rs6992944	0.83[EUR][1000 genomes]
rs6996052	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs7003059	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7006017	0.82[JPT][hapmap]
rs7006629	0.82[JPT][hapmap]
rs7007855	0.82[EUR][1000 genomes]
rs7015490	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs7017706	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7017716	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes]
rs7017719	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs71503461	0.81[ASN][1000 genomes]
rs7459811	0.82[JPT][hapmap]
rs7459897	0.81[JPT][hapmap]
rs7460286	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs7460439	0.82[JPT][hapmap]
rs7461413	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7465046	0.81[ASN][1000 genomes]
rs7465511	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs7816275	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7820234	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7820697	0.81[JPT][hapmap]
rs7830480	0.83[EUR][1000 genomes]
rs7832493	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7837569	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs7839601	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7841690	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846090	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9283958	0.91[CEU][hapmap]
rs9297861	0.91[CEU][hapmap]
rs9297922	0.94[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs9642913	0.82[JPT][hapmap]
rs9942792	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9942823	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2976181	MMP16	cis	parietal	SCAN
rs2976181	FAM82B	cis	parietal	SCAN
rs2976181	RMDN1	cis	Whole Blood	GTEx
rs2976181	FAM82B	cis	cerebellum	SCAN
rs2976181	FAM82B	cis	lesional skin	skin_eQTL
rs2976181	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

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	chr8:87340800-87346000	Weak transcription	Liver	Liver
3	chr8:87341800-87346400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:87343400-87354000	Weak transcription	Right Atrium	heart

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