Variant report

Variant	rs1422088
Chromosome Location	chr5:88578810-88578811
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	chr5:88574584..88577579-chr5:88578180..88581256,5	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12653655	0.90[ASN][1000 genomes]
rs12654335	0.94[ASN][1000 genomes]
rs12657507	0.81[ASN][1000 genomes]
rs12657575	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12659254	0.94[ASN][1000 genomes]
rs1833588	0.94[ASN][1000 genomes]
rs34324795	0.88[ASN][1000 genomes]
rs59344477	0.80[ASN][1000 genomes]
rs60081637	0.88[ASN][1000 genomes]
rs60218625	0.94[ASN][1000 genomes]
rs7711573	0.94[ASN][1000 genomes]

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	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830387	chr5:88547862-88682442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88576200-88579000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr5:88576200-88581000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:88576200-88589200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:88576400-88579000	Enhancers	Aorta	Aorta
5	chr5:88576400-88580000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:88576600-88580800	Enhancers	Hela-S3	cervix
7	chr5:88576800-88581000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:88577200-88579800	Enhancers	NH-A	brain
9	chr5:88577200-88579800	Enhancers	Osteobl	bone
10	chr5:88577600-88579200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:88577600-88579200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:88577800-88583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:88578200-88579000	Enhancers	NHLF	lung
14	chr5:88578200-88579200	Enhancers	HMEC	breast
15	chr5:88578200-88579400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:88578200-88579800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:88578200-88579800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:88578200-88579800	Enhancers	NHDF-Ad	bronchial
19	chr5:88578200-88580000	Enhancers	HSMM	muscle
20	chr5:88578400-88579000	Weak transcription	HSMMtube	muscle
21	chr5:88578400-88579800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:88578400-88579800	Enhancers	NHEK	skin
23	chr5:88578400-88580000	Enhancers	GM12878-XiMat	blood
24	chr5:88578600-88580800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:88578600-88581000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:88578600-88581400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:88578800-88585000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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