Variant report

Variant	rs730954
Chromosome Location	chr7:26574666-26574667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12700743	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12700744	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12700745	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541424	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859601	0.84[MEX][hapmap]
rs2391283	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2391285	0.87[ASW][hapmap];0.80[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4722608	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6962965	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs730955	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs740182	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs878361	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs995993	0.81[CHB][hapmap];0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs730954	CPVL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26571000-26578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:26572400-26576200	Enhancers	Fetal Kidney	kidney
3	chr7:26574200-26574800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr7:26574200-26575000	Enhancers	Fetal Heart	heart
5	chr7:26574200-26575600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr7:26574200-26575800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr7:26574200-26577600	Enhancers	Fetal Thymus	thymus
8	chr7:26574200-26579000	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:26574200-26579400	Enhancers	Thymus	Thymus
10	chr7:26574400-26575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:26574400-26575800	Enhancers	Brain Germinal Matrix	brain
12	chr7:26574400-26576200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:26574600-26575600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:26574600-26576000	Enhancers	Fetal Stomach	stomach

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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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