Variant report

Variant	rs948477
Chromosome Location	chr11:65793858-65793859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65791225..65793923-chr11:65817959..65820856,2	K562	blood:
2	chr11:65788506..65790955-chr11:65792237..65795353,3	MCF-7	breast:
3	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
4	chr11:65657179..65659552-chr11:65792099..65795097,2	MCF-7	breast:
5	chr11:65792176..65796965-chr11:65812595..65817477,5	MCF-7	breast:
6	chr11:65778738..65782540-chr11:65791690..65794306,3	MCF-7	breast:
7	chr11:65657243..65659691-chr11:65793625..65795769,2	K562	blood:

Variant related genes	Relation type
ENSG00000175229	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175294	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1143916	1.00[AMR][1000 genomes]
rs1144796	1.00[AMR][1000 genomes]
rs1151508	1.00[AMR][1000 genomes]
rs1151532	0.96[AFR][1000 genomes]
rs1190945	0.88[AFR][1000 genomes]
rs1190946	0.82[AFR][1000 genomes]
rs1191715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1201503	1.00[AMR][1000 genomes]
rs1203551	0.88[AFR][1000 genomes]
rs1203552	0.88[AFR][1000 genomes]
rs1203749	0.96[AFR][1000 genomes]
rs1203750	0.96[AFR][1000 genomes]
rs1203799	1.00[AMR][1000 genomes]
rs1203801	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1630638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1783562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2430981	0.86[AFR][1000 genomes]
rs2452687	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs3016315	0.81[AFR][1000 genomes]
rs3017606	0.85[AFR][1000 genomes]
rs4523703	0.83[YRI][hapmap]
rs471709	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs472853	0.96[AFR][1000 genomes]
rs475817	0.96[AFR][1000 genomes]
rs477001	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs485547	0.89[AFR][1000 genomes]
rs4930332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502898	0.86[AFR][1000 genomes]
rs504456	0.96[AFR][1000 genomes]
rs505412	0.88[AFR][1000 genomes]
rs505642	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs512316	0.88[AFR][1000 genomes]
rs515778	0.88[AFR][1000 genomes]
rs519911	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs527279	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs532265	0.83[AFR][1000 genomes]
rs541954	1.00[YRI][hapmap]
rs547282	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs547892	0.96[AFR][1000 genomes]
rs549228	0.96[AFR][1000 genomes]
rs551652	0.96[AFR][1000 genomes]
rs555527	1.00[YRI][hapmap]
rs555826	0.81[AFR][1000 genomes]
rs560105	0.96[AFR][1000 genomes]
rs560983	0.80[AFR][1000 genomes]
rs561199	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs561869	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs567414	0.96[AFR][1000 genomes]
rs568423	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs571368	0.88[AFR][1000 genomes]
rs572697	0.88[AFR][1000 genomes]
rs577301	0.96[AFR][1000 genomes]
rs581247	0.88[AFR][1000 genomes]
rs59973646	1.00[AMR][1000 genomes]
rs6591196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693382	0.96[AFR][1000 genomes]
rs73498471	1.00[AMR][1000 genomes]
rs7934588	0.92[AFR][1000 genomes]
rs7947668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
4	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases
5	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv825954	chr11:65792840-65803470	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
2	chr11:65790000-65800800	Weak transcription	HSMMtube	muscle
3	chr11:65790400-65812600	Weak transcription	Right Atrium	heart
4	chr11:65790400-65818600	Weak transcription	HSMM	muscle
5	chr11:65793200-65794400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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