Variant report

Variant	rs4300491
Chromosome Location	chr13:111578117-111578118
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111565144..111570554-chr13:111572745..111578890,10	K562	blood:
2	chr13:111570816..111574963-chr13:111576664..111580632,4	K562	blood:
3	chr13:111570816..111572768-chr13:111577705..111580632,2	K562	blood:

Variant related genes	Relation type
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2391882	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2391883	0.93[AMR][1000 genomes]
rs2391884	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4773280	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4773281	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4773282	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4773283	0.87[EUR][1000 genomes]
rs4773285	0.89[AMR][1000 genomes]
rs6492327	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7332577	0.89[AMR][1000 genomes]
rs7335159	0.89[AMR][1000 genomes]
rs7338011	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7997786	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7998138	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8000168	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8000446	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9515315	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9515317	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521996	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9521997	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9521998	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9522001	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9555744	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9555745	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1050379	chr13:111516429-111701302	Genic enhancers Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv541927	chr13:111516429-111701302	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111573800-111579400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr13:111575000-111581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:111575200-111578800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr13:111576200-111578800	Enhancers	Fetal Muscle Leg	muscle
5	chr13:111577400-111578200	Weak transcription	K562	blood
6	chr13:111577800-111578200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:111577800-111578200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:111578000-111579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:111578000-111579200	Weak transcription	Colon Smooth Muscle	Colon

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