Variant report

Variant	rs10514225
Chromosome Location	chr5:81057444-81057445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81054198..81057812-chr5:81146006..81150384,5	K562	blood:
2	chr5:81056056..81058943-chr5:81144399..81145914,2	K562	blood:
3	chr5:81045698..81048740-chr5:81055494..81058903,3	MCF-7	breast:
4	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:
5	chr5:81053903..81057293-chr5:81057315..81060035,4	K562	blood:

Variant related genes	Relation type
ENSG00000249483	Chromatin interaction
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4703842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894488	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10514225	VCAN	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81048000-81065000	Weak transcription	Aorta	Aorta
2	chr5:81048400-81060200	Weak transcription	Right Atrium	heart
3	chr5:81048400-81062400	Weak transcription	Left Ventricle	heart
4	chr5:81052200-81063600	Weak transcription	NH-A	brain
5	chr5:81052200-81064800	Weak transcription	NHDF-Ad	bronchial
6	chr5:81052200-81065400	Weak transcription	Placenta	Placenta
7	chr5:81052400-81063600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:81052800-81072200	Weak transcription	Psoas Muscle	Psoas
9	chr5:81053000-81058000	Weak transcription	A549	lung
10	chr5:81054200-81057600	Enhancers	Primary T cells from cord blood	blood
11	chr5:81054800-81060200	Weak transcription	Thymus	Thymus
12	chr5:81054800-81064800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:81055800-81059400	Weak transcription	Adipose Nuclei	Adipose
14	chr5:81056000-81058800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:81056000-81063600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:81056200-81063000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:81056400-81057600	Enhancers	Fetal Intestine Small	intestine
18	chr5:81056400-81057800	Flanking Active TSS	K562	blood
19	chr5:81056600-81057600	Enhancers	Dnd41	blood
20	chr5:81056800-81058800	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:81057000-81057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:81057200-81058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:81057200-81060200	Weak transcription	Fetal Thymus	thymus
24	chr5:81057400-81062800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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