Variant report

Variant	rs58265345
Chromosome Location	chr21:40789375-40789376
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40788196..40789911-chr21:40796313..40798498,2	MCF-7	breast:
2	chr21:40758997..40761375-chr21:40788226..40790999,2	MCF-7	breast:
3	chr21:40784167..40788125-chr21:40789270..40793629,5	K562	blood:
4	chr21:40786710..40789568-chr21:40816730..40818254,2	K562	blood:

Variant related genes	Relation type
ENSG00000157578	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000185437	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2837009	0.89[ASN][1000 genomes]
rs2837015	0.89[ASN][1000 genomes]
rs2837017	0.89[ASN][1000 genomes]
rs2837018	0.83[ASN][1000 genomes]
rs7275686	0.89[ASN][1000 genomes]
rs7276575	0.89[ASN][1000 genomes]
rs7279753	0.89[ASN][1000 genomes]
rs73365952	0.83[ASN][1000 genomes]
rs73906032	0.89[ASN][1000 genomes]
rs73906033	0.89[ASN][1000 genomes]
rs73906034	0.89[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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs58265345	WRB	cis	Artery Tibial	GTEx
rs58265345	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs58265345	WRB	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
3	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
4	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:40780200-40791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:40780600-40789800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr21:40780600-40790000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:40780600-40790600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr21:40780600-40794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:40780600-40801800	Weak transcription	Lung	lung
14	chr21:40780800-40791800	Weak transcription	Brain Substantia Nigra	brain
15	chr21:40780800-40794200	Weak transcription	Brain Germinal Matrix	brain
16	chr21:40781200-40798600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
18	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
20	chr21:40781400-40802000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr21:40785000-40800600	Weak transcription	Gastric	stomach
22	chr21:40786200-40792000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:40786400-40792400	Weak transcription	Thymus	Thymus
24	chr21:40786600-40798000	Weak transcription	Ovary	ovary
25	chr21:40788600-40790800	Weak transcription	K562	blood

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