Variant report

Variant	rs4561872
Chromosome Location	chr3:158156757-158156758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1095642	0.84[EUR][1000 genomes]
rs11717725	0.86[ASN][1000 genomes]
rs11719188	0.86[ASN][1000 genomes]
rs12107103	0.86[ASN][1000 genomes]
rs12107104	0.86[ASN][1000 genomes]
rs12496767	0.81[ASN][1000 genomes]
rs12629125	0.86[ASN][1000 genomes]
rs12631196	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12633594	0.86[ASN][1000 genomes]
rs12638169	0.88[ASN][1000 genomes]
rs2362968	0.86[ASN][1000 genomes]
rs2362969	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2362970	0.86[ASN][1000 genomes]
rs2362972	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28820925	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4289388	0.87[ASN][1000 genomes]
rs4679828	0.86[ASN][1000 genomes]
rs4680433	0.86[ASN][1000 genomes]
rs4680434	0.86[ASN][1000 genomes]
rs4680436	0.86[ASN][1000 genomes]
rs4680437	0.85[ASN][1000 genomes]
rs6441195	0.87[ASN][1000 genomes]
rs6441197	0.88[ASN][1000 genomes]
rs6441198	0.87[ASN][1000 genomes]
rs6441200	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6441201	0.83[ASN][1000 genomes]
rs67385174	0.86[ASN][1000 genomes]
rs6800887	0.86[ASN][1000 genomes]
rs6806702	0.84[ASN][1000 genomes]
rs7426603	0.86[ASN][1000 genomes]
rs7430565	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7610691	0.86[ASN][1000 genomes]
rs7632059	0.86[ASN][1000 genomes]
rs7641954	0.87[ASN][1000 genomes]
rs827106	0.84[EUR][1000 genomes]
rs827134	0.84[EUR][1000 genomes]
rs827135	0.84[EUR][1000 genomes]
rs827184	0.82[EUR][1000 genomes]
rs9810345	0.88[ASN][1000 genomes]
rs9823076	0.86[ASN][1000 genomes]
rs9843089	0.85[ASN][1000 genomes]
rs9847045	0.85[ASN][1000 genomes]
rs9847316	0.88[ASN][1000 genomes]
rs9847460	0.86[ASN][1000 genomes]
rs9850856	0.86[ASN][1000 genomes]
rs9870802	0.86[ASN][1000 genomes]
rs9872889	0.81[ASN][1000 genomes]
rs9877909	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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	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
2	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
3	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1000904	chr3:158094357-158159317	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv967206	chr3:158149860-158176292	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4561872	RSRC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158145600-158164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:158156400-158176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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