Variant report

Variant	rs1455857
Chromosome Location	chr7:136639941-136639942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136638125..136641155-chr7:136643037..136646443,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1111418	0.82[CHD][hapmap]
rs1158586	0.96[CEU][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12155015	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap]
rs1364407	0.91[CEU][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes]
rs1364409	0.91[CEU][hapmap];0.92[AMR][1000 genomes]
rs1378645	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1378646	0.96[CEU][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1378647	0.96[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1455858	1.00[CEU][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1824024	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2113545	0.83[MEX][hapmap]
rs2350782	0.81[CHB][hapmap]
rs2350783	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34135940	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6467695	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6467696	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6942627	0.88[AMR][1000 genomes]
rs6943656	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs6943950	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6952264	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6960707	0.96[CEU][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7782965	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7792449	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs978437	0.91[CEU][hapmap];0.92[AMR][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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1455857	PLXNA4	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136623400-136641600	Weak transcription	Right Ventricle	heart
2	chr7:136623600-136641600	Weak transcription	Left Ventricle	heart
3	chr7:136633800-136641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:136635600-136641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:136638000-136641200	Enhancers	HUVEC	blood vessel
6	chr7:136638400-136640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:136638400-136640600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:136638400-136642200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:136638800-136640200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:136638800-136640200	Weak transcription	NH-A	brain
11	chr7:136638800-136640200	Weak transcription	Osteobl	bone
12	chr7:136638800-136641600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:136638800-136641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:136638800-136641600	Weak transcription	Gastric	stomach
15	chr7:136638800-136641600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:136639000-136640000	Weak transcription	NHLF	lung
17	chr7:136639000-136640200	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:136639000-136640400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:136639000-136641400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:136639400-136641600	Weak transcription	Pancreas	Pancrea
21	chr7:136639800-136640200	Enhancers	Fetal Heart	heart

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