Variant report

Variant	rs55946357
Chromosome Location	chr4:75015433-75015434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75015218..75017263-chr4:75033299..75035722,2	K562	blood:
2	chr4:75015320..75016851-chr4:75026469..75028278,2	K562	blood:
3	chr4:75011353..75013399-chr4:75014178..75017069,2	K562	blood:
4	chr4:75011899..75013611-chr4:75013852..75015678,2	K562	blood:
5	chr4:75014766..75017413-chr4:75021945..75024735,2	MCF-7	breast:
6	chr4:75013764..75016584-chr4:75022049..75024231,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10518119	1.00[EUR][1000 genomes]
rs10938110	1.00[EUR][1000 genomes]
rs11942036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11947475	1.00[EUR][1000 genomes]
rs1440405	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1440406	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850579	1.00[EUR][1000 genomes]
rs16850585	1.00[EUR][1000 genomes]
rs4694665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs474734	1.00[EUR][1000 genomes]
rs479117	1.00[EUR][1000 genomes]
rs507061	1.00[EUR][1000 genomes]
rs522698	1.00[EUR][1000 genomes]
rs536780	1.00[EUR][1000 genomes]
rs552357	1.00[EUR][1000 genomes]
rs56000473	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56006412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56236141	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56896590	1.00[EUR][1000 genomes]
rs569187	1.00[EUR][1000 genomes]
rs569206	1.00[EUR][1000 genomes]
rs58250046	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60336088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60633195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6833925	1.00[EUR][1000 genomes]
rs6841682	1.00[EUR][1000 genomes]
rs6850735	1.00[EUR][1000 genomes]
rs73824406	1.00[EUR][1000 genomes]
rs73824413	1.00[EUR][1000 genomes]
rs73824415	1.00[EUR][1000 genomes]
rs73824419	1.00[EUR][1000 genomes]
rs73824429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824433	1.00[AMR][1000 genomes]
rs73827550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73827558	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73827561	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73827562	1.00[EUR][1000 genomes]
rs7681620	1.00[EUR][1000 genomes]
rs7687073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9685225	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3467199	chr4:75014018-75015442	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr4:75011800-75022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:75013200-75023200	Weak transcription	Psoas Muscle	Psoas
3	chr4:75014000-75022000	Weak transcription	HMEC	breast
4	chr4:75014400-75022200	Weak transcription	NHEK	skin
5	chr4:75014800-75016000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:75015400-75015800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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