Variant report

Variant	rs4890750
Chromosome Location	chr18:14851108-14851109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10468701	0.80[EUR][1000 genomes]
rs10468702	0.81[EUR][1000 genomes]
rs10775421	0.82[EUR][1000 genomes]
rs10775422	0.82[EUR][1000 genomes]
rs11080794	0.82[EUR][1000 genomes]
rs12457328	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12970537	0.80[EUR][1000 genomes]
rs1356570	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap]
rs1622544	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1713886	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1713892	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1713895	0.80[EUR][1000 genomes]
rs1770756	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1970446	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28454867	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3126404	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3878726	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4113248	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55721158	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55774912	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55929438	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785982	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs785989	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs785993	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs9284405	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9303862	0.81[EUR][1000 genomes]
rs9303863	0.80[EUR][1000 genomes]
rs9303864	0.82[EUR][1000 genomes]
rs9303869	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9675641	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9709715	0.80[EUR][1000 genomes]
rs9748546	0.84[EUR][1000 genomes]
rs9797358	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9989501	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428006	chr18:14087067-14874733	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	esv2751771	chr18:14704694-15106727	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2756821	chr18:14741611-14865985	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv961033	chr18:14838212-14874870	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv909434	chr18:14841828-15149366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv9619	chr18:14842691-14851922	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4890750	MC5R	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14841800-14852000	Weak transcription	Osteobl	bone
2	chr18:14850600-14851200	Enhancers	Dnd41	blood
3	chr18:14850800-14852600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:14851000-14851200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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