Variant report

Variant	rs72772034
Chromosome Location	chr5:95949727-95949728
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95949438..95951808-chr5:96023239..96024214,15	MCF-7	breast:
2	chr5:95949330..95950528-chr5:96064710..96066043,6	MCF-7	breast:
3	chr5:95949471..95950075-chr5:96064546..96065074,2	K562	blood:
4	chr5:95949549..95950328-chr5:96023131..96023820,3	K562	blood:
5	chr5:95948215..95952715-chr5:95997286..95999874,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11744742	0.80[EUR][1000 genomes]
rs11748144	0.80[EUR][1000 genomes]
rs11749612	0.80[EUR][1000 genomes]
rs72772004	0.87[EUR][1000 genomes]
rs72772009	0.87[EUR][1000 genomes]
rs72772010	0.87[EUR][1000 genomes]
rs72772014	0.87[EUR][1000 genomes]
rs72772015	0.87[EUR][1000 genomes]
rs72772019	0.87[EUR][1000 genomes]
rs72772022	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772023	1.00[EUR][1000 genomes]
rs72772028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772036	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772037	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7707773	0.87[EUR][1000 genomes]
rs7708703	0.93[EUR][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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95947800-95950000	Enhancers	Hela-S3	cervix
2	chr5:95948200-95949800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:95949400-95949800	Enhancers	NHDF-Ad	bronchial
4	chr5:95949400-95950000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:95949400-95950000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr5:95949400-95950000	Enhancers	NHEK	skin
7	chr5:95949400-95950000	Enhancers	NHLF	lung
8	chr5:95949400-95951200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:95949400-95951400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:95949600-95949800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:95949600-95949800	Enhancers	HepG2	liver
12	chr5:95949600-95949800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:95949600-95950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:95949600-95950000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:95949600-95950000	Enhancers	HMEC	breast
16	chr5:95949600-95950000	Enhancers	NH-A	brain
17	chr5:95949600-95950000	Enhancers	Osteobl	bone
18	chr5:95949600-95950400	Flanking Active TSS	HUVEC	blood vessel
19	chr5:95949600-95950800	Enhancers	A549	lung
20	chr5:95949600-95953200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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