Variant report

Variant	rs2847265
Chromosome Location	chr18:12773553-12773554
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	chr18:12772443..12775307-chr18:12781731..12784605,2	MCF-7	breast:
2	chr18:12767228..12769677-chr18:12772403..12775378,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12971201	0.88[YRI][hapmap]
rs2542152	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2542157	0.84[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2542160	0.89[CHB][hapmap]
rs2542162	0.88[YRI][hapmap]
rs2847256	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2847257	0.84[ASN][1000 genomes]
rs2847258	0.81[ASN][1000 genomes]
rs2847276	0.83[ASN][1000 genomes]
rs2847277	0.83[ASN][1000 genomes]
rs2847281	0.88[YRI][hapmap]
rs2847286	0.84[ASW][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs2847292	0.83[ASN][1000 genomes]
rs2847298	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs478582	0.86[MKK][hapmap];0.88[YRI][hapmap]
rs4797709	1.00[YRI][hapmap]
rs674222	1.00[YRI][hapmap]
rs8087237	0.86[MKK][hapmap];0.88[YRI][hapmap]
rs888269	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs888271	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1062149	chr18:12728115-12783898	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
9	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2847265	MC5R	cis	parietal	SCAN
rs2847265	RP11-973H7.4	cis	Whole Blood	GTEx
rs2847265	PTPN2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12750800-12774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr18:12762000-12774800	Weak transcription	Primary T cells from cord blood	blood
3	chr18:12767000-12776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12767400-12815800	Weak transcription	Gastric	stomach
5	chr18:12768000-12773800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr18:12768800-12774200	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr18:12772000-12775000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr18:12772400-12775200	Weak transcription	HepG2	liver
9	chr18:12773000-12773600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
10	chr18:12773000-12774600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:12773000-12775000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr18:12773200-12773800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr18:12773400-12774800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr18:12773400-12776200	Active TSS	Thymus	Thymus

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