Variant report

Variant	rs1723838
Chromosome Location	chr11:73477045-73477046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73469342..73472373-chr11:73476784..73479479,3	MCF-7	breast:
2	chr11:73475127..73478054-chr11:73482525..73484326,2	MCF-7	breast:
3	chr11:73468518..73473759-chr11:73476049..73479488,5	K562	blood:
4	chr11:73475133..73477274-chr11:73489282..73491741,2	MCF-7	breast:
5	chr11:73469480..73474305-chr11:73476302..73479488,4	K562	blood:

Variant related genes	Relation type
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10898944	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11235903	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12293194	0.86[AFR][1000 genomes]
rs1466218	0.93[YRI][hapmap]
rs1525750	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1525751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1618529	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs1621654	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1624231	0.88[AMR][1000 genomes]
rs1670548	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670553	0.93[YRI][hapmap]
rs1670560	0.93[YRI][hapmap]
rs1670561	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs1670571	0.86[YRI][hapmap]
rs1723834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1723839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1723842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1723844	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1723845	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1723846	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1723849	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1792157	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792164	0.93[YRI][hapmap]
rs1792186	0.93[YRI][hapmap]
rs1792195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1792196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1792202	0.92[YRI][hapmap]
rs1880642	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1880643	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1976914	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2008722	0.90[ASW][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2037706	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2037709	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2056649	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs2366944	0.91[EUR][1000 genomes]
rs2444600	0.82[AFR][1000 genomes]
rs2462617	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2511262	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs2511263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2511265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2511269	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2511275	0.93[YRI][hapmap]
rs2512633	0.84[LWK][hapmap]
rs2515091	1.00[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2515095	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs2886812	0.93[YRI][hapmap]
rs4548648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4551800	0.83[AFR][1000 genomes]
rs4944026	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs4944027	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4944030	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4944854	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs4944857	0.91[EUR][1000 genomes]
rs4944859	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4944860	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs4944864	0.89[EUR][1000 genomes]
rs4944865	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs594814	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs610280	1.00[ASW][hapmap]
rs652229	1.00[ASW][hapmap]
rs6592528	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6592529	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7101957	0.81[TSI][hapmap]
rs7108695	0.85[CEU][hapmap]
rs7396121	0.91[EUR][1000 genomes]
rs7932364	1.00[YRI][hapmap]
rs7942515	0.91[EUR][1000 genomes]
rs7950472	0.86[AFR][1000 genomes]
rs935989	0.93[YRI][hapmap]
rs940831	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs9634024	0.88[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][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

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73472800-73477600	Weak transcription	HSMMtube	muscle
2	chr11:73473000-73481400	Weak transcription	Hela-S3	cervix
3	chr11:73475600-73479800	Weak transcription	K562	blood
4	chr11:73476600-73477800	Enhancers	Stomach Mucosa	stomach

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