Variant report

Variant	rs12607811
Chromosome Location	chr18:11845706-11845707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11844070..11848990-chr18:11849011..11853292,8	K562	blood:
2	chr18:11844551..11846873-chr18:11850097..11853641,4	K562	blood:
3	chr18:11844210..11845711-chr4:103747136..103748758,2	K562	blood:
4	chr18:11843998..11847439-chr18:11850128..11853196,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000267165	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1249630	0.86[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs12607391	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12607581	0.81[ASN][1000 genomes]
rs1614379	0.81[JPT][hapmap]
rs1647553	0.82[JPT][hapmap];0.89[TSI][hapmap]
rs1647558	0.82[JPT][hapmap]
rs16976735	0.92[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16976739	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16976750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1786563	0.81[JPT][hapmap]
rs1786564	0.82[JPT][hapmap]
rs1786566	0.82[JPT][hapmap]
rs1786567	0.81[JPT][hapmap]
rs1786569	0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1786570	0.84[ASN][1000 genomes]
rs1786573	0.80[CHD][hapmap]
rs2276134	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4324196	0.83[ASN][1000 genomes]
rs60682158	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60821058	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72868650	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72868655	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72868658	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946370	0.90[ASN][1000 genomes]
rs9962908	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9966733	0.88[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12607811	RNMT	cis	cerebellum	SCAN
rs12607811	SEH1L	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11825400-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr18:11830800-11849000	Weak transcription	A549	lung
3	chr18:11837400-11849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:11837400-11849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:11840400-11849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:11841000-11849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:11841000-11849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:11841200-11849400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11845000-11849200	Weak transcription	HMEC	breast
10	chr18:11845200-11846200	Enhancers	K562	blood
11	chr18:11845600-11845800	Enhancers	Primary neutrophils fromperipheralblood	blood

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