Variant report

Variant	rs4947477
Chromosome Location	chr7:50903934-50903935
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	chr7:50902525..50906129-chr7:50919563..50922496,3	MCF-7	breast:
2	chr7:50857865..50859927-chr7:50902975..50905675,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10230084	0.85[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs10233389	0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs10239364	0.88[AMR][1000 genomes]
rs10242300	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10250894	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10282345	0.83[EUR][1000 genomes]
rs12718959	0.85[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs12718972	0.83[AMR][1000 genomes]
rs17564264	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1862946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1862948	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28626771	0.83[ASN][1000 genomes]
rs4947478	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947934	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4947936	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947937	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947938	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947939	0.83[EUR][1000 genomes]
rs4947945	0.85[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6593249	0.81[AMR][1000 genomes]
rs6593251	0.81[AMR][1000 genomes]
rs6593252	0.81[AMR][1000 genomes]
rs6976298	0.83[EUR][1000 genomes]
rs7357209	0.83[EUR][1000 genomes]
rs7779063	0.81[AMR][1000 genomes]
rs7802799	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9642401	0.83[AMR][1000 genomes]
rs9656704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4947477	C7orf72	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50891000-50906000	Weak transcription	Aorta	Aorta
2	chr7:50901200-50905200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:50901600-50905200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:50902600-50904800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:50903000-50904800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:50903000-50905000	Weak transcription	Osteobl	bone
7	chr7:50903000-50905200	Weak transcription	A549	lung
8	chr7:50903000-50906000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:50903400-50904800	Weak transcription	HUVEC	blood vessel
10	chr7:50903400-50905000	Weak transcription	NH-A	brain
11	chr7:50903800-50906000	Weak transcription	Hela-S3	cervix

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