Variant report

Variant	rs10953602
Chromosome Location	chr7:108901908-108901909
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	chr7:108900168..108902978-chr7:108903344..108906087,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10234165	0.89[EUR][1000 genomes]
rs1023506	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10258475	0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs11978844	1.00[CHD][hapmap]
rs11983931	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12705552	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12705553	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12705576	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13308920	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1858893	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1858894	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1987422	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2012783	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2015731	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2015789	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2078861	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2106442	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2106443	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2106445	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2188433	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2188440	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2214061	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2396074	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2396075	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2396076	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2396095	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28887322	0.85[AMR][1000 genomes]
rs4727722	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4730365	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs756842	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs756843	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs766705	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs766706	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7779745	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7786274	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7800005	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7800571	0.96[EUR][1000 genomes]
rs7801136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7809205	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs848835	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831091	chr7:108756218-108923644	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1018586	chr7:108759240-109034145	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv429794	chr7:108763098-109003574	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1016803	chr7:108786402-109013227	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539054	chr7:108786402-109013227	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv831094	chr7:108806619-108981593	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1849605	chr7:108882191-108913019	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10953602	C7orf53	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108898600-108902000	Enhancers	Dnd41	blood
2	chr7:108901400-108902000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:108901400-108902000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:108901600-108902000	Enhancers	NHEK	skin
5	chr7:108901600-108902200	Enhancers	HMEC	breast

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