Variant report

Variant	rs16870788
Chromosome Location	chr8:104883146-104883147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104807612..104809857-chr8:104883134..104884151,8	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10505052	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10955332	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955333	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10955334	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12155936	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12156016	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12543980	0.88[ASN][1000 genomes]
rs12545944	0.88[ASN][1000 genomes]
rs12547819	0.88[ASN][1000 genomes]
rs12548029	0.88[ASN][1000 genomes]
rs12548406	0.86[EUR][1000 genomes]
rs12548742	0.88[ASN][1000 genomes]
rs12550348	0.89[EUR][1000 genomes]
rs12675494	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12682214	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1521059	0.88[ASN][1000 genomes]
rs1593497	0.85[ASN][1000 genomes]
rs1607912	0.88[ASN][1000 genomes]
rs16870611	0.88[ASN][1000 genomes]
rs16870636	0.88[ASN][1000 genomes]
rs16870649	0.88[ASN][1000 genomes]
rs16870656	0.88[ASN][1000 genomes]
rs16870733	0.88[ASN][1000 genomes]
rs16870735	0.88[ASN][1000 genomes]
rs16870772	0.88[ASN][1000 genomes]
rs16870776	0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs16870792	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2023025	0.84[EUR][1000 genomes]
rs2023026	0.85[EUR][1000 genomes]
rs2067550	0.88[ASN][1000 genomes]
rs2080611	0.88[ASN][1000 genomes]
rs2111494	0.88[ASN][1000 genomes]
rs2132644	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34195802	0.88[ASN][1000 genomes]
rs4301418	0.88[ASN][1000 genomes]
rs4333556	0.85[ASN][1000 genomes]
rs4446700	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4532569	0.88[ASN][1000 genomes]
rs4541867	0.85[ASN][1000 genomes]
rs4549736	0.88[ASN][1000 genomes]
rs56139465	0.88[ASN][1000 genomes]
rs56232122	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56369021	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58139259	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58345884	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58631312	0.88[ASN][1000 genomes]
rs59382988	0.88[ASN][1000 genomes]
rs59732166	0.88[ASN][1000 genomes]
rs61099915	0.85[ASN][1000 genomes]
rs61556831	0.88[ASN][1000 genomes]
rs6468894	0.88[ASN][1000 genomes]
rs6990561	0.88[ASN][1000 genomes]
rs7462974	0.88[ASN][1000 genomes]
rs7832196	0.88[ASN][1000 genomes]
rs7836355	0.88[ASN][1000 genomes]
rs9650010	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9650011	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs978825	0.88[ASN][1000 genomes]

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	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2752692	chr8:104520824-105123824	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016387	chr8:104578389-104931853	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv1841024	chr8:104872512-104908099	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16870788	RP11-1C8.7	cis	Thyroid	GTEx
rs16870788	RIMS2	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104859400-104897200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104882400-104884200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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