Variant report

Variant	rs4486096
Chromosome Location	chr7:39354782-39354783
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12113287	0.91[LWK][hapmap]
rs4330591	0.91[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4339541	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.97[LWK][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4720317	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4723843	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4723845	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4723853	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6462903	0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6462904	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6971051	0.83[LWK][hapmap]
rs6972647	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6979956	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73118076	0.98[AFR][1000 genomes]
rs73128456	0.91[ASN][1000 genomes]
rs73130472	0.95[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4486096	C7orf36	cis	parietal	SCAN
rs4486096	CD151	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39350600-39358400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:39350800-39355200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:39353000-39355200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:39353200-39355200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:39353400-39355000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:39353400-39355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:39353400-39355200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:39353400-39355400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:39353600-39355000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:39353600-39355400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:39353800-39355200	Enhancers	Fetal Kidney	kidney
12	chr7:39354400-39354800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:39354600-39355200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:39354600-39355400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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