Variant report

Variant	rs792829
Chromosome Location	chr3:99462647-99462648
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	chr3:99460540..99463119-chr3:99475037..99476950,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1606481	0.93[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs1711557	0.93[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs1857290	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs506186	0.81[ASN][1000 genomes]
rs629120	0.93[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs651511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs668668	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs694429	0.92[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs704570	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes]
rs704573	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes]
rs792828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs792834	1.00[CHB][hapmap]
rs792839	0.82[AMR][1000 genomes]
rs793489	0.81[AMR][1000 genomes]
rs793490	0.85[AMR][1000 genomes]
rs793491	0.83[AMR][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	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs792829	SENP7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99440400-99471000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:99441400-99466800	Weak transcription	NH-A	brain
3	chr3:99443400-99471400	Weak transcription	Aorta	Aorta
4	chr3:99449600-99463400	Weak transcription	HUVEC	blood vessel
5	chr3:99450400-99463600	Weak transcription	NHDF-Ad	bronchial
6	chr3:99450400-99463800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:99458600-99466600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:99458600-99466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:99458600-99470000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:99458600-99470200	Weak transcription	Lung	lung
11	chr3:99458600-99471000	Weak transcription	NHLF	lung
12	chr3:99458600-99471200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:99458600-99472200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:99460400-99463800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:99460600-99466800	Strong transcription	Osteobl	bone
16	chr3:99460800-99466400	Weak transcription	NHEK	skin
17	chr3:99461400-99468400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:99461600-99466800	Strong transcription	HSMM	muscle
19	chr3:99461800-99466600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr3:99462200-99463000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:99462400-99495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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