Variant report

Variant	rs72752601
Chromosome Location	chr5:43245357-43245358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:43119802..43122333-chr5:43244382..43246743,2	MCF-7	breast:
2	chr5:43244010..43245897-chr5:43482270..43484298,3	K562	blood:
3	chr5:43239013..43240653-chr5:43243952..43245634,2	K562	blood:
4	chr5:43238537..43240317-chr5:43243004..43245569,2	MCF-7	breast:
5	chr5:43244137..43245817-chr5:43282614..43284616,2	K562	blood:
6	chr5:43243517..43246248-chr5:43252850..43254500,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114947.1.1-3	chr5:43245184-43245432	NONHSAT101299
2	lnc-AC114947.1.1-3	chr5:43245184-43245464	NONHSAT101300

No data

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10045186	0.88[EUR][1000 genomes]
rs10045460	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10056788	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062177	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10066481	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10512819	0.88[EUR][1000 genomes]
rs13356344	0.88[EUR][1000 genomes]
rs16873170	0.88[EUR][1000 genomes]
rs28394528	0.88[EUR][1000 genomes]
rs28600138	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28697178	0.88[EUR][1000 genomes]
rs4421113	0.88[EUR][1000 genomes]
rs4428421	0.89[EUR][1000 genomes]
rs55799546	0.88[EUR][1000 genomes]
rs58488720	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6867229	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6868632	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6885598	0.88[EUR][1000 genomes]
rs6887169	0.94[EUR][1000 genomes]
rs72752582	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752598	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73751045	0.88[EUR][1000 genomes]
rs73751047	0.88[EUR][1000 genomes]
rs7701546	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7709926	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9292866	0.88[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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
4	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
6	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43231000-43245600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr5:43232200-43245400	Weak transcription	Brain Anterior Caudate	brain
4	chr5:43232800-43246000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:43233200-43245400	Weak transcription	Brain Substantia Nigra	brain
6	chr5:43234200-43245400	Weak transcription	Brain Angular Gyrus	brain
7	chr5:43237200-43245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:43242600-43245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:43243400-43245400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:43243800-43245600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr5:43245000-43245600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:43245200-43245600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr5:43245200-43245600	Bivalent Enhancer	HepG2	liver
14	chr5:43245200-43245800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:43245200-43246600	Strong transcription	Brain Hippocampus Middle	brain
16	chr5:43245200-43246600	Flanking Active TSS	GM12878-XiMat	blood
17	chr5:43245200-43247600	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr5:43245200-43252800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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