Variant report

Variant	rs722937
Chromosome Location	chr4:90971745-90971746
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10014272	0.86[JPT][hapmap]
rs1031125	0.85[ASN][1000 genomes]
rs11097241	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11929774	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11931255	0.88[ASN][1000 genomes]
rs12648916	0.94[EUR][1000 genomes]
rs13104173	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13113259	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13117400	0.97[EUR][1000 genomes]
rs13122257	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13122493	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13127674	0.88[ASN][1000 genomes]
rs1443797	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1808952	0.88[ASN][1000 genomes]
rs1838220	0.90[EUR][1000 genomes]
rs1975488	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2120373	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2197291	0.88[ASN][1000 genomes]
rs35049792	0.88[ASN][1000 genomes]
rs35474064	0.88[ASN][1000 genomes]
rs3919723	0.88[ASN][1000 genomes]
rs4561894	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4626162	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56300941	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6532211	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs6812321	0.94[EUR][1000 genomes]
rs6815240	0.97[EUR][1000 genomes]
rs6816256	0.88[ASN][1000 genomes]
rs6819864	0.88[ASN][1000 genomes]
rs6826127	0.88[ASN][1000 genomes]
rs6830566	1.00[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6839192	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6842029	1.00[CEU][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs724455	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7655785	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7662081	0.94[EUR][1000 genomes]
rs7670600	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7671006	0.94[EUR][1000 genomes]
rs7671248	0.86[JPT][hapmap]
rs7675130	0.95[EUR][1000 genomes]
rs894803	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv879537	chr4:90883047-91165346	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv830006	chr4:90971656-91186340	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs722937	DSPP	cis	cerebellum	SCAN
rs722937	MMRN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90964000-90973400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:90966200-90973400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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