Variant report

Variant	rs1723840
Chromosome Location	chr11:73473885-73473886
allele	A/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	MAFK	chr11:73473788-73474134	HepG2	liver:	n/a	chr11:73473963-73473979 chr11:73473962-73473976 chr11:73473963-73473978 chr11:73473963-73473974 chr11:73473963-73473974
2	MAFF	chr11:73473818-73474091	HepG2	liver:	n/a	chr11:73473961-73473979

No.	Distal block	Cell Line	Cell type
1	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
2	chr11:73472337..73473992-chr11:73479937..73481486,2	K562	blood:
3	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
4	chr11:73469543..73471312-chr11:73473090..73474750,2	K562	blood:

Variant related genes	Relation type
RAB6A	TF binding region
ENSG00000175582	Chromatin interaction
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1043234	1.00[ASN][1000 genomes]
rs10736793	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898943	0.97[ASN][1000 genomes]
rs11235834	0.81[JPT][hapmap]
rs11235843	0.90[JPT][hapmap]
rs11235844	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11235850	0.80[ASN][1000 genomes]
rs11235851	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs11235852	0.84[ASN][1000 genomes]
rs11235859	0.86[ASN][1000 genomes]
rs11235860	0.86[ASN][1000 genomes]
rs11235864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11235875	0.97[ASN][1000 genomes]
rs11235881	0.97[ASN][1000 genomes]
rs11235882	0.94[ASN][1000 genomes]
rs11235885	0.91[ASN][1000 genomes]
rs11235886	0.97[ASN][1000 genomes]
rs11235887	0.93[ASN][1000 genomes]
rs11235888	1.00[ASN][1000 genomes]
rs11235898	0.84[ASN][1000 genomes]
rs11235905	0.84[ASN][1000 genomes]
rs11235907	0.84[ASN][1000 genomes]
rs11235908	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs11235910	0.84[ASN][1000 genomes]
rs11235913	0.84[ASN][1000 genomes]
rs11235914	0.84[ASN][1000 genomes]
rs11235915	0.84[ASN][1000 genomes]
rs11235920	0.81[ASN][1000 genomes]
rs12365044	0.97[ASN][1000 genomes]
rs12366033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1464908	0.83[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17132369	0.84[ASN][1000 genomes]
rs17132403	0.88[JPT][hapmap]
rs1830069	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037710	0.86[ASN][1000 genomes]
rs2140892	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3211165	1.00[ASN][1000 genomes]
rs3825003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4944028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4944029	0.86[ASN][1000 genomes]
rs4944032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4944033	0.94[ASN][1000 genomes]
rs4944034	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs4944856	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4944862	0.94[ASN][1000 genomes]
rs55910552	0.84[ASN][1000 genomes]
rs58862453	0.86[ASN][1000 genomes]
rs60020777	0.84[ASN][1000 genomes]
rs60074535	0.94[ASN][1000 genomes]
rs60239378	0.94[ASN][1000 genomes]
rs6590	0.90[JPT][hapmap]
rs6592531	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66481935	0.80[ASN][1000 genomes]
rs66556722	0.86[ASN][1000 genomes]
rs66610247	0.84[ASN][1000 genomes]
rs66626689	0.94[ASN][1000 genomes]
rs67167213	0.97[ASN][1000 genomes]
rs67488767	0.97[ASN][1000 genomes]
rs68128239	0.86[ASN][1000 genomes]
rs7101957	0.87[YRI][hapmap]
rs7105309	0.93[CHB][hapmap]
rs7106773	0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7115166	0.97[ASN][1000 genomes]
rs7119528	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs7128512	0.87[CEU][hapmap];0.90[JPT][hapmap]
rs72974840	0.80[ASN][1000 genomes]
rs72974866	0.86[ASN][1000 genomes]
rs72976852	0.97[ASN][1000 genomes]
rs72989228	0.84[ASN][1000 genomes]
rs7929705	0.84[ASN][1000 genomes]
rs7939193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73472800-73475000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:73472800-73475400	Weak transcription	HepG2	liver
3	chr11:73472800-73477600	Weak transcription	HSMMtube	muscle
4	chr11:73473000-73475000	Weak transcription	K562	blood
5	chr11:73473000-73476600	Weak transcription	Stomach Mucosa	stomach
6	chr11:73473000-73481400	Weak transcription	Hela-S3	cervix

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