Variant report

Variant	rs6990395
Chromosome Location	chr8:10871047-10871048
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	chr8:10869029..10871589-chr8:10873580..10875933,2	MCF-7	breast:
2	chr8:10865711..10867297-chr8:10870824..10872479,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10091913	0.93[EUR][1000 genomes]
rs10107384	0.93[EUR][1000 genomes]
rs10111751	0.87[ASN][1000 genomes]
rs10216472	0.95[EUR][1000 genomes]
rs10217059	0.95[EUR][1000 genomes]
rs11250108	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11250110	1.00[ASN][1000 genomes]
rs11779199	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11784312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785788	0.87[ASN][1000 genomes]
rs11988372	0.95[EUR][1000 genomes]
rs11995682	0.95[EUR][1000 genomes]
rs12216757	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12216784	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12216875	0.95[EUR][1000 genomes]
rs35083028	1.00[ASN][1000 genomes]
rs3923921	0.87[ASN][1000 genomes]
rs4074356	1.00[ASN][1000 genomes]
rs4074822	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4076425	1.00[ASN][1000 genomes]
rs4320511	0.96[EUR][1000 genomes]
rs4370496	1.00[ASN][1000 genomes]
rs4386942	1.00[ASN][1000 genomes]
rs4507728	0.92[EUR][1000 genomes]
rs4840531	0.87[ASN][1000 genomes]
rs4841469	0.80[EUR][1000 genomes]
rs4841471	0.93[EUR][1000 genomes]
rs4841472	0.95[EUR][1000 genomes]
rs4841473	0.87[ASN][1000 genomes]
rs4841474	0.93[EUR][1000 genomes]
rs4841475	0.95[EUR][1000 genomes]
rs4841476	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841477	0.87[EUR][1000 genomes]
rs4841478	0.91[EUR][1000 genomes]
rs4841479	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56011306	1.00[ASN][1000 genomes]
rs56052312	0.87[EUR][1000 genomes]
rs56112120	0.87[ASN][1000 genomes]
rs56278516	0.83[EUR][1000 genomes]
rs56319439	0.83[EUR][1000 genomes]
rs59446076	0.87[ASN][1000 genomes]
rs61427182	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601546	0.92[EUR][1000 genomes]
rs67113145	1.00[ASN][1000 genomes]
rs7001599	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016361	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73196884	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73196885	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73196888	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7350066	0.87[ASN][1000 genomes]
rs7350072	0.87[ASN][1000 genomes]
rs7350074	1.00[ASN][1000 genomes]
rs7813323	0.87[ASN][1000 genomes]
rs7820231	0.87[ASN][1000 genomes]
rs7822400	1.00[ASN][1000 genomes]
rs7824797	0.93[EUR][1000 genomes]
rs7826561	0.93[EUR][1000 genomes]
rs7833832	0.95[EUR][1000 genomes]
rs7836687	0.93[EUR][1000 genomes]
rs7836720	0.93[EUR][1000 genomes]
rs7837828	0.93[EUR][1000 genomes]
rs7838833	0.93[EUR][1000 genomes]
rs7842214	0.87[ASN][1000 genomes]
rs9329232	0.93[EUR][1000 genomes]
rs9657542	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6990395	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10859400-10872200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:10870400-10871200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:10870400-10871400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr8:10870400-10872400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:10870600-10871200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:10870600-10871200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:10870600-10871400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr8:10870600-10871400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:10870600-10871400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:10870600-10871600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:10870600-10872000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:10870600-10872400	Weak transcription	Spleen	Spleen
13	chr8:10870800-10871400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr8:10870800-10871400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:10870800-10872400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:10870800-10872400	Weak transcription	Pancreas	Pancrea
17	chr8:10871000-10872400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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