Variant report

Variant	rs4469355
Chromosome Location	chr7:39303926-39303927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11514783	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12701705	0.86[JPT][hapmap]
rs4273761	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4283935	0.83[LWK][hapmap]
rs4302751	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4314553	0.82[JPT][hapmap]
rs4316059	0.82[JPT][hapmap]
rs4551233	0.82[JPT][hapmap]
rs4577868	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73126493	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73128418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7793509	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4469355	ANLN	cis	cerebellum	SCAN
rs4469355	INHBA	cis	parietal	SCAN
rs4469355	SEPT7	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39293800-39310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:39299200-39304600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:39299200-39304600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:39299600-39304800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:39299800-39304000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:39299800-39305800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:39300400-39305200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:39301000-39310600	Weak transcription	Fetal Brain Male	brain
9	chr7:39303200-39304200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:39303600-39304000	Enhancers	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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