Variant report

Variant	rs9947295
Chromosome Location	chr18:11759432-11759433
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	chr18:11757282..11759468-chr18:11825869..11827548,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11872939	0.85[CEU][hapmap]
rs1424913	0.85[CEU][hapmap]
rs1477484	0.85[CEU][hapmap]
rs16973028	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16976623	0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1895689	0.85[MKK][hapmap]
rs2052660	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2052661	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2113738	0.93[YRI][hapmap]
rs28468616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866279	0.85[MKK][hapmap]
rs2903236	0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4547404	0.90[ASN][1000 genomes]
rs60025683	0.97[ASN][1000 genomes]
rs61184045	0.90[ASN][1000 genomes]
rs6505673	0.89[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6505674	0.81[AFR][1000 genomes]
rs7227421	0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7234970	0.97[ASN][1000 genomes]
rs73944252	0.90[ASN][1000 genomes]
rs73946312	0.93[ASN][1000 genomes]
rs73946313	0.93[ASN][1000 genomes]
rs73947607	0.90[ASN][1000 genomes]
rs8084370	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084625	0.90[ASN][1000 genomes]
rs8085082	0.97[ASN][1000 genomes]
rs8090628	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs8091359	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8099153	0.85[CEU][hapmap]
rs9303745	0.90[ASN][1000 genomes]
rs9954406	0.81[AFR][1000 genomes]
rs9957311	0.81[AFR][1000 genomes]
rs9960175	0.82[CEU][hapmap]
rs9964761	0.90[ASN][1000 genomes]
rs9967279	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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

Variant related diseases (count:1)

Disease	PMID	Source
QT interval (interaction)	23459443	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9947295	C18orf1	cis	parietal	SCAN
rs9947295	RNMT	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11752800-11767200	Weak transcription	Aorta	Aorta
2	chr18:11752800-11774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:11753000-11760800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:11753000-11760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:11753000-11767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:11753000-11767200	Weak transcription	Esophagus	oesophagus
7	chr18:11753000-11768000	Weak transcription	HMEC	breast
8	chr18:11753000-11774800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:11753000-11775400	Weak transcription	Gastric	stomach
10	chr18:11754000-11765400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:11755000-11765400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:11755200-11765600	Weak transcription	Brain Germinal Matrix	brain
13	chr18:11755800-11761200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:11756000-11761000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:11756600-11769200	Weak transcription	Fetal Brain Female	brain
16	chr18:11758200-11766800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:11758400-11785600	Weak transcription	Brain Anterior Caudate	brain
18	chr18:11758800-11761800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:11759400-11759600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:11759400-11759600	Enhancers	Fetal Kidney	kidney
21	chr18:11759400-11760000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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