Variant report

Variant	rs7236162
Chromosome Location	chr18:13141904-13141905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13139722..13141913-chr18:13426612..13428353,2	MCF-7	breast:
2	chr18:13141699..13142727-chr18:13159347..13160164,3	MCF-7	breast:
3	chr18:13140854..13145257-chr18:13540228..13543130,4	MCF-7	breast:
4	chr18:13139784..13142937-chr18:13215706..13218370,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267690	Chromatin interaction
ENSG00000267239	Chromatin interaction
ENSG00000168675	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10221326	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11080620	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11663049	0.81[EUR][1000 genomes]
rs12605638	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12955780	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1786263	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1786270	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1786279	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1787000	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1787003	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1787004	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1787008	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1973779	0.82[EUR][1000 genomes]
rs28619103	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28641764	0.83[EUR][1000 genomes]
rs2902856	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35790309	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs472992	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs473580	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs474337	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs475139	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs478006	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs482360	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482577	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490853	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs491349	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs492458	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs492723	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs498685	0.82[EUR][1000 genomes]
rs518145	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs527839	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs529620	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs547084	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs554719	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs554854	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs556371	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs556536	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs557846	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562151	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565832	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs567031	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs569453	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs576963	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs578208	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6505775	0.80[EUR][1000 genomes]
rs6505776	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6505777	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6505780	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs692833	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs692964	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71353243	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7226616	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7229870	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7233600	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7233814	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7234094	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7234960	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7237236	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7243660	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8088313	0.80[EUR][1000 genomes]
rs8097038	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8097125	0.83[AMR][1000 genomes]
rs9783859	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9783903	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9949589	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9961669	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9964466	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv960622	chr18:13141328-13142837	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3437323	chr18:13141552-13145850	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7236162	CEP192	cis	Artery Aorta	GTEx
rs7236162	CEP192	cis	Nerve Tibial	GTEx
rs7236162	CEP192	cis	Esophagus Mucosa	GTEx
rs7236162	CEP192	cis	lung	GTEx
rs7236162	CEP192	cis	Thyroid	GTEx
rs7236162	CEP192	cis	Skin Sun Exposed Lower leg	GTEx
rs7236162	CEP192	cis	Artery Tibial	GTEx
rs7236162	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs7236162	CEP192	cis	Esophagus Muscularis	GTEx
rs7236162	CEP192	cis	Stomach	GTEx
rs7236162	CEP192	cis	Whole Blood	GTEx
rs7236162	CEP192	cis	Adipose Subcutaneous	GTEx
rs7236162	CEP192	cis	Heart Left Ventricle	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:13138000-13142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:13138000-13144200	Weak transcription	Pancreas	Pancrea
4	chr18:13138000-13144200	Weak transcription	Psoas Muscle	Psoas
5	chr18:13138800-13143200	Weak transcription	Adipose Nuclei	Adipose
6	chr18:13138800-13143800	Weak transcription	Spleen	Spleen
7	chr18:13138800-13144200	Weak transcription	Thymus	Thymus
8	chr18:13141400-13143200	Enhancers	HepG2	liver

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