Variant report

Variant	rs73084490
Chromosome Location	chr5:40819547-40819548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
2	chr5:40816237..40819777-chr5:40833085..40836718,5	MCF-7	breast:
3	chr5:40816639..40819938-chr5:40825309..40828911,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1001684	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10041430	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10043245	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10065570	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1122655	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11956019	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11956047	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11957736	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763074	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6876367	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6899032	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7717357	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:40808800-40825600	Weak transcription	HSMM	muscle
3	chr5:40813200-40823600	Weak transcription	K562	blood
4	chr5:40814000-40821600	Weak transcription	Thymus	Thymus
5	chr5:40814200-40826000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:40814200-40826000	Weak transcription	GM12878-XiMat	blood
7	chr5:40814200-40826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:40814400-40825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:40814400-40825200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:40814600-40827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:40816600-40826600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:40816600-40826800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:40817400-40821600	Weak transcription	Fetal Thymus	thymus
14	chr5:40818600-40826600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:40818600-40827000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:40818800-40825200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:40818800-40826200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:40819000-40825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:40819000-40825600	Weak transcription	NH-A	brain
20	chr5:40819000-40825600	Weak transcription	NHLF	lung
21	chr5:40819400-40826600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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