Variant report

Variant	rs67996007
Chromosome Location	chr18:13142682-13142683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr18:13142660-13143140	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:13141699..13142727-chr18:13159347..13160164,3	MCF-7	breast:
2	chr18:13140854..13145257-chr18:13540228..13543130,4	MCF-7	breast:
3	chr18:13139784..13142937-chr18:13215706..13218370,3	MCF-7	breast:
4	chr18:13142218..13144930-chr18:13215209..13217622,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267656	TF binding region
ENSG00000168675	Chromatin interaction
ENSG00000267239	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11080626	0.81[AMR][1000 genomes]
rs11080627	0.81[AMR][1000 genomes]
rs11080628	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11659468	0.81[EUR][1000 genomes]
rs11660634	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11661163	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11662528	0.81[AMR][1000 genomes]
rs11663369	0.81[AMR][1000 genomes]
rs11663399	0.81[AMR][1000 genomes]
rs11663455	0.81[AMR][1000 genomes]
rs11663778	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12607661	0.81[AMR][1000 genomes]
rs3602	0.81[EUR][1000 genomes]
rs3786162	0.81[AMR][1000 genomes]
rs3786163	0.81[AMR][1000 genomes]
rs3786164	0.81[AMR][1000 genomes]
rs58158805	0.81[AMR][1000 genomes]
rs58322002	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58343237	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58558999	0.85[AMR][1000 genomes]
rs59278606	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60444886	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60710487	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60989271	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62095829	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66466160	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66494849	0.88[AMR][1000 genomes]
rs6650616	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66929859	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67068160	0.81[EUR][1000 genomes]
rs67258461	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67415465	0.81[EUR][1000 genomes]
rs67538562	0.81[EUR][1000 genomes]
rs67565680	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67640584	0.81[EUR][1000 genomes]
rs67838921	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67863818	0.83[AMR][1000 genomes]
rs68051414	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7233578	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7236172	0.81[ASN][1000 genomes]
rs72636759	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8094351	0.81[AMR][1000 genomes]
rs9952452	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
9	nsv960622	chr18:13141328-13142837	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3437323	chr18:13141552-13145850	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3362821	chr18:13142477-13145200	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2534756	chr18:13142662-13144576	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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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