Variant report

Variant	rs7016585
Chromosome Location	chr8:120030098-120030099
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120027926..120030445-chr8:120032552..120034631,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10090576	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10091277	0.85[EUR][1000 genomes]
rs10505348	0.87[JPT][hapmap]
rs10505351	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955919	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955924	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11573829	0.87[JPT][hapmap]
rs11573885	0.87[JPT][hapmap]
rs11992136	0.94[JPT][hapmap]
rs12682278	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254554	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13260214	0.81[AMR][1000 genomes]
rs13262276	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264172	0.80[EUR][1000 genomes]
rs13264791	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1485289	0.81[JPT][hapmap]
rs1485310	0.83[EUR][1000 genomes]
rs1872422	0.82[EUR][1000 genomes]
rs1872423	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1872426	0.87[JPT][hapmap]
rs1905783	0.88[EUR][1000 genomes]
rs1905784	0.88[EUR][1000 genomes]
rs1905786	0.87[JPT][hapmap]
rs2062375	0.87[JPT][hapmap]
rs2062377	0.82[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs2073618	0.87[JPT][hapmap]
rs2220189	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2450083	0.80[CEU][hapmap]
rs28437165	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28621599	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4242592	0.87[JPT][hapmap]
rs4273881	0.87[EUR][1000 genomes]
rs4305930	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4307369	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4313185	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4319131	0.87[JPT][hapmap]
rs4335155	0.87[EUR][1000 genomes]
rs4336637	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4354338	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4355805	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4397431	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403440	0.84[EUR][1000 genomes]
rs4403441	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4424291	0.88[EUR][1000 genomes]
rs4424296	0.87[EUR][1000 genomes]
rs4495461	0.85[EUR][1000 genomes]
rs4567065	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4615609	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4618726	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4876876	0.94[JPT][hapmap]
rs6415470	0.87[JPT][hapmap]
rs6469788	0.84[JPT][hapmap]
rs6469789	0.87[JPT][hapmap]
rs6469794	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469795	0.88[EUR][1000 genomes]
rs6469796	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469797	0.88[EUR][1000 genomes]
rs6469798	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67819415	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984287	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984572	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6993813	0.82[EUR][1000 genomes]
rs6996754	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999476	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004052	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7006553	0.87[JPT][hapmap]
rs7010043	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7010267	0.87[JPT][hapmap]
rs7013203	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013722	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7463176	0.87[JPT][hapmap]
rs7464496	0.87[JPT][hapmap]
rs7813486	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7822098	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838083	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842942	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650075	0.88[EUR][1000 genomes]
rs9969672	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv437631	chr8:120015963-120051656	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7016585	MED30	cis	cerebellum	SCAN
rs7016585	COLEC10	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120030000-120030200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:120030000-120030800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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