Variant report

Variant	rs11710570
Chromosome Location	chr3:158056654-158056655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158056303..158058112-chr3:158060574..158062116,2	K562	blood:
2	chr3:158053775..158055865-chr3:158056110..158058613,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10936129	0.81[EUR][1000 genomes]
rs10936142	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12494098	0.81[EUR][1000 genomes]
rs12496767	0.82[EUR][1000 genomes]
rs12631628	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12631675	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12632998	0.81[EUR][1000 genomes]
rs2176893	0.81[EUR][1000 genomes]
rs2222326	0.81[EUR][1000 genomes]
rs28578723	0.80[EUR][1000 genomes]
rs3845981	0.81[EUR][1000 genomes]
rs4309677	0.80[EUR][1000 genomes]
rs4324501	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4680426	0.81[EUR][1000 genomes]
rs4680431	0.80[EUR][1000 genomes]
rs55705928	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs60336101	0.81[EUR][1000 genomes]
rs6441188	0.81[EUR][1000 genomes]
rs6441201	0.83[EUR][1000 genomes]
rs67761009	0.80[EUR][1000 genomes]
rs6788703	0.80[EUR][1000 genomes]
rs73170315	0.81[EUR][1000 genomes]
rs73170348	0.81[EUR][1000 genomes]
rs7610713	0.80[EUR][1000 genomes]
rs7630443	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7639867	0.80[EUR][1000 genomes]
rs7650256	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9809952	0.80[EUR][1000 genomes]
rs9867152	0.80[EUR][1000 genomes]
rs9867617	0.80[EUR][1000 genomes]
rs9872089	0.80[EUR][1000 genomes]
rs9872889	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer 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 target site	47 gene(s)	inside rSNPs	diseases
4	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11710570	RSRC1	cis	Esophagus Muscularis	GTEx
rs11710570	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158047800-158064800	Weak transcription	Ovary	ovary
2	chr3:158047800-158077800	Weak transcription	Gastric	stomach
3	chr3:158048000-158059800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:158048200-158079400	Weak transcription	Right Ventricle	heart
5	chr3:158052600-158059200	Weak transcription	Lung	lung
6	chr3:158053400-158058800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr3:158054400-158059000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:158054800-158058600	Weak transcription	Primary B cells from cord blood	blood
9	chr3:158055000-158056800	Weak transcription	Aorta	Aorta
10	chr3:158055000-158057600	Weak transcription	Dnd41	blood
11	chr3:158055000-158077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:158055200-158086000	Weak transcription	Left Ventricle	heart
13	chr3:158055400-158057600	Weak transcription	Primary T cells from cord blood	blood

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