Variant report

Variant	rs4325639
Chromosome Location	chr18:9624796-9624797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11874827	0.83[CEU][hapmap]
rs12455573	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12458145	0.83[CEU][hapmap]
rs2306134	0.83[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs28817058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28861672	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903503	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903505	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3898762	0.83[CEU][hapmap]
rs584737	0.90[JPT][hapmap]
rs60571867	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745218	0.81[CEU][hapmap];0.85[MEX][hapmap]
rs8095826	0.87[ASN][1000 genomes]
rs9304040	0.83[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs9945701	0.83[CEU][hapmap]
rs9946612	0.83[CEU][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap]
rs9948354	0.87[ASN][1000 genomes]
rs9948831	0.82[CEU][hapmap];0.85[MEX][hapmap]
rs9961558	0.83[CEU][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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4325639	RAB31	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
2	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9617400-9625400	Weak transcription	HMEC	breast
5	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:9619800-9627400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:9620000-9625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9620000-9625600	Weak transcription	Hela-S3	cervix
9	chr18:9620000-9627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:9620000-9627400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:9620000-9627600	Weak transcription	NHDF-Ad	bronchial
12	chr18:9620200-9625200	Weak transcription	NHEK	skin
13	chr18:9620200-9625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:9620200-9625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:9620200-9627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:9620200-9627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:9620200-9627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:9620200-9627400	Weak transcription	NHLF	lung
19	chr18:9620200-9627400	Weak transcription	Osteobl	bone
20	chr18:9620800-9627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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