Variant report

Variant	rs573322
Chromosome Location	chr11:58696355-58696356
allele	C/T
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	HDAC2	chr11:58696061-58696402	HepG2	liver:	n/a	n/a
2	SP1	chr11:58696135-58696546	HepG2	liver:	n/a	n/a
3	JUND	chr11:58696304-58696566	HepG2	liver:	n/a	n/a
4	FOXA1	chr11:58695975-58696630	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:58696044-58696569	HepG2	liver:	n/a	n/a
6	RXRA	chr11:58696231-58696521	HepG2	liver:	n/a	n/a
7	FOXA1	chr11:58695995-58696592	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:58696066-58696519	HepG2	liver:	n/a	n/a
9	FOXA2	chr11:58696074-58696653	HepG2	liver:	n/a	n/a
10	FOXA2	chr11:58696049-58696509	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000255523	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1788524	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1788538	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1788550	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs472554	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474253	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs481247	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485025	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs485893	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs486950	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs487309	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487920	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs488737	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs489732	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494149	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs500462	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs503591	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs503918	0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs513877	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs517039	0.96[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs517387	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs522376	1.00[CEU][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs530180	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531578	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs534890	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs538678	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541258	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544800	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552591	0.96[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs565355	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs577190	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs578396	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs578549	0.81[CEU][hapmap]
rs578610	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6591500	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7945540	0.81[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv3444895	chr11:58614102-58779384	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3445007	chr11:58638330-58709867	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3502182	chr11:58668199-58731237	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3502181	chr11:58668236-58731215	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3478019	chr11:58668282-58731214	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3478030	chr11:58668282-58731214	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3502183	chr11:58668353-58731177	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3393019	chr11:58679419-58880845	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58694800-58696400	Flanking Active TSS	Fetal Intestine Large	intestine
2	chr11:58695400-58696400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr11:58695600-58696400	Enhancers	Stomach Mucosa	stomach
4	chr11:58695800-58696400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:58696000-58697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:58696200-58696400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:58696200-58696400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:58696200-58696600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:58696200-58696600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:58696200-58696600	Enhancers	HepG2	liver
11	chr11:58696200-58696800	Active TSS	Liver	Liver
12	chr11:58696200-58697000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:58696200-58697200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:58696200-58697200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:58696200-58697400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:58696200-58697400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:58696200-58697800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:58696200-58699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:58696200-58699000	Enhancers	Fetal Intestine Small	intestine
20	chr11:58696200-58700800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:58696200-58701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:58696200-58701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:58696200-58703800	Weak transcription	Thymus	Thymus

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