Variant report

Variant	rs7847393
Chromosome Location	chr9:98795713-98795714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98793079..98797604-chr9:98797988..98801744,7	MCF-7	breast:
2	chr9:98790248..98792722-chr9:98793401..98795775,2	MCF-7	breast:
3	chr9:98790389..98794152-chr9:98794649..98798124,5	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10115110	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117340	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512242	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10512245	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10739705	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10760189	0.80[AMR][1000 genomes]
rs10760679	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10818899	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10819650	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10819663	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10819668	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10819720	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10987963	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10988755	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10988817	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10989035	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1195130	0.92[AMR][1000 genomes]
rs12340954	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12345187	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12347675	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12348051	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12349742	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1327996	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1327997	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13298093	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13299166	0.80[AMR][1000 genomes]
rs1556026	0.91[EUR][1000 genomes]
rs2026031	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2296858	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2405372	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2943532	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs589362	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs596413	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs603947	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs609296	0.84[AMR][1000 genomes]
rs617187	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs623438	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs624075	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs625105	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62559026	0.84[AMR][1000 genomes]
rs62559767	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs640297	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs649819	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs657451	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs666093	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs667705	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs671058	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs682682	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs684455	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs686048	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs689619	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689696	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs689697	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs689710	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs689738	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689744	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689761	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs689804	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs689911	0.81[AMR][1000 genomes]
rs689986	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs690056	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690063	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690286	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs690495	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690528	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs690633	0.89[AMR][1000 genomes]
rs694230	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7847983	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs816682	0.81[AMR][1000 genomes]
rs816683	0.80[AMR][1000 genomes]
rs816684	0.80[AMR][1000 genomes]
rs966217	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893599	chr9:98542410-98991254	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv524266	chr9:98780606-98804274	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7847393	ERCC6L2	cis	Artery Tibial	GTEx
rs7847393	C9orf102	cis	multi-tissue	Pritchard
rs7847393	ERCC6L2	cis	Adipose Subcutaneous	GTEx
rs7847393	C9orf130	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98790200-98795800	Weak transcription	Esophagus	oesophagus
2	chr9:98790800-98810800	Weak transcription	Brain Angular Gyrus	brain
3	chr9:98791200-98796800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:98793600-98800800	Weak transcription	Brain Substantia Nigra	brain
5	chr9:98793600-98804600	Weak transcription	Fetal Heart	heart
6	chr9:98794200-98796800	Weak transcription	Fetal Intestine Small	intestine
7	chr9:98794200-98797000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:98794400-98796200	Weak transcription	Brain Anterior Caudate	brain
9	chr9:98794400-98796400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:98794400-98797800	Weak transcription	Fetal Lung	lung
11	chr9:98794400-98801000	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:98794600-98796600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:98794600-98799400	Weak transcription	Pancreas	Pancrea
14	chr9:98795000-98796400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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