Variant report

Variant	rs2168842
Chromosome Location	chr4:69817817-69817818
allele	C/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	MAX	chr4:69817275-69817893	HepG2	liver:	n/a	n/a
2	NFIC	chr4:69816915-69818286	HepG2	liver:	n/a	n/a
3	TBP	chr4:69816831-69818180	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:69817024-69818124	HepG2	liver:	n/a	n/a
5	MAX	chr4:69817096-69818126	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:69817147-69818247	HepG2	liver:	n/a	chr4:69818070-69818081
7	MAFK	chr4:69817277-69817917	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:69816753-69817985	HepG2	liver:	n/a	n/a
9	MYBL2	chr4:69816662-69818029	HepG2	liver:	n/a	n/a
10	ARID3A	chr4:69816858-69818218	HepG2	liver:	n/a	n/a
11	TCF7L2	chr4:69817279-69818089	HepG2	liver:	n/a	n/a
12	MAFK	chr4:69817262-69817914	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
UGT2A3	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10027817	0.89[EUR][1000 genomes]
rs10447075	0.85[ASN][1000 genomes]
rs10447076	0.85[ASN][1000 genomes]
rs10447077	0.84[ASN][1000 genomes]
rs1075100	0.93[ASN][1000 genomes]
rs11249517	0.89[EUR][1000 genomes]
rs11249518	0.88[EUR][1000 genomes]
rs12505263	0.90[EUR][1000 genomes]
rs12719832	0.87[EUR][1000 genomes]
rs12719833	0.87[EUR][1000 genomes]
rs12719834	0.87[EUR][1000 genomes]
rs12719835	0.87[EUR][1000 genomes]
rs13102620	1.00[CEU][hapmap]
rs13140844	1.00[CEU][hapmap]
rs13147648	1.00[CEU][hapmap]
rs1458229	0.87[EUR][1000 genomes]
rs1458230	0.88[EUR][1000 genomes]
rs1458238	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1458240	0.92[ASN][1000 genomes]
rs1598902	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1598903	0.89[EUR][1000 genomes]
rs17147016	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1841050	0.83[ASN][1000 genomes]
rs1841051	0.83[ASN][1000 genomes]
rs1902936	0.89[EUR][1000 genomes]
rs2013866	0.87[EUR][1000 genomes]
rs2018024	0.83[ASN][1000 genomes]
rs2199039	0.88[EUR][1000 genomes]
rs2199040	0.89[EUR][1000 genomes]
rs2290764	0.83[ASN][1000 genomes]
rs2290765	0.81[ASN][1000 genomes]
rs2331569	0.85[ASN][1000 genomes]
rs2331570	0.85[ASN][1000 genomes]
rs28485675	0.88[EUR][1000 genomes]
rs35470687	0.83[ASN][1000 genomes]
rs36006127	0.93[ASN][1000 genomes]
rs3749510	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749514	0.95[ASN][1000 genomes]
rs3886642	0.89[EUR][1000 genomes]
rs3886643	0.89[EUR][1000 genomes]
rs4146121	0.89[EUR][1000 genomes]
rs4235108	1.00[CEU][hapmap]
rs4235111	1.00[CEU][hapmap]
rs4299665	1.00[CEU][hapmap]
rs4299666	1.00[CEU][hapmap]
rs4305590	1.00[CEU][hapmap]
rs4353969	1.00[CEU][hapmap]
rs4467643	0.83[ASN][1000 genomes]
rs4487432	0.89[EUR][1000 genomes]
rs4495114	1.00[CEU][hapmap]
rs4590113	0.85[ASN][1000 genomes]
rs4694487	0.83[ASN][1000 genomes]
rs57547462	0.83[ASN][1000 genomes]
rs58016259	0.83[ASN][1000 genomes]
rs59300882	0.82[ASN][1000 genomes]
rs59449984	0.83[ASN][1000 genomes]
rs59590628	0.92[ASN][1000 genomes]
rs60931562	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61021826	0.83[ASN][1000 genomes]
rs61235442	0.83[ASN][1000 genomes]
rs61416981	0.83[ASN][1000 genomes]
rs6812186	0.87[EUR][1000 genomes]
rs6812415	0.87[EUR][1000 genomes]
rs6817568	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6827511	0.91[CEU][hapmap]
rs6833024	0.93[ASN][1000 genomes]
rs6847948	0.89[EUR][1000 genomes]
rs7440384	0.85[ASN][1000 genomes]
rs7441736	1.00[CEU][hapmap]
rs7679122	0.90[EUR][1000 genomes]
rs7690181	0.89[EUR][1000 genomes]
rs7695476	0.89[EUR][1000 genomes]
rs988887	0.88[EUR][1000 genomes]
rs9998014	0.87[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	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv967758	chr4:69780530-69870183	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv10519	chr4:69816500-69835939	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69808600-69819600	Weak transcription	Small Intestine	intestine
2	chr4:69815200-69825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:69817200-69819800	Enhancers	HepG2	liver
4	chr4:69817400-69819600	Weak transcription	Pancreas	Pancrea
5	chr4:69817600-69818000	Enhancers	Fetal Kidney	kidney
6	chr4:69817600-69818000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:69817600-69818200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:69817600-69818600	Enhancers	Liver	Liver
9	chr4:69817600-69818600	Weak transcription	Fetal Heart	heart
10	chr4:69817600-69818600	Weak transcription	Stomach Mucosa	stomach
11	chr4:69817600-69820600	Enhancers	Fetal Intestine Large	intestine
12	chr4:69817600-69820600	Enhancers	Fetal Intestine Small	intestine
13	chr4:69817800-69820400	Enhancers	Duodenum Mucosa	Duodenum

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