Variant report

Variant	rs7733100
Chromosome Location	chr5:92496794-92496795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92492798..92494347-chr5:92496334..92499006,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10514371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951631	0.88[EUR][1000 genomes]
rs11960764	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288882	0.86[ASN][1000 genomes]
rs59636184	0.87[EUR][1000 genomes]
rs6557065	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872680	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879703	0.81[EUR][1000 genomes]
rs6884717	0.87[EUR][1000 genomes]
rs72784407	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784408	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784412	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72784413	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72784415	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72784417	0.87[EUR][1000 genomes]
rs72784426	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7341012	0.87[EUR][1000 genomes]
rs7722832	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729235	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9764312	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7733100	POU5F2	cis	parietal	SCAN
rs7733100	NR2F1	cis	parietal	SCAN
rs7733100	POLR3D	trans	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92486600-92498200	Weak transcription	Aorta	Aorta
2	chr5:92494000-92498200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:92494800-92497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:92494800-92498200	Weak transcription	Right Atrium	heart
5	chr5:92495000-92497000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:92495000-92497000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:92495000-92497000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:92495000-92497000	Weak transcription	NH-A	brain
9	chr5:92495000-92497400	Weak transcription	NHEK	skin
10	chr5:92495000-92498000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:92495200-92497000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:92495200-92497000	Weak transcription	Adipose Nuclei	Adipose
13	chr5:92495200-92498000	Weak transcription	HSMMtube	muscle
14	chr5:92495800-92496800	Weak transcription	NHDF-Ad	bronchial
15	chr5:92496000-92498200	Enhancers	HSMM	muscle
16	chr5:92496200-92498000	Enhancers	Osteobl	bone
17	chr5:92496200-92498600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:92496400-92497200	Enhancers	Colon Smooth Muscle	Colon
19	chr5:92496400-92497400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:92496400-92497600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:92496400-92497600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:92496400-92497600	Enhancers	Stomach Smooth Muscle	stomach
23	chr5:92496400-92498600	Enhancers	Fetal Stomach	stomach
24	chr5:92496400-92500800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:92496400-92500800	Enhancers	HMEC	breast
26	chr5:92496600-92496800	Enhancers	Fetal Kidney	kidney
27	chr5:92496600-92498200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:92496600-92499400	Enhancers	Fetal Lung	lung
29	chr5:92496600-92500600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr5:92496600-92500800	Enhancers	NHLF	lung

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