Variant report

Variant	rs4924292
Chromosome Location	chr15:39005898-39005899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12912542	0.87[GIH][hapmap];0.88[MEX][hapmap]
rs2624277	0.84[ASN][1000 genomes]
rs2643202	0.83[ASN][1000 genomes]
rs2643210	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2643211	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2643212	0.83[ASN][1000 genomes]
rs2643213	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949171	chr15:38232548-39033746	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1046994	chr15:38806163-39239014	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv525770	chr15:38816833-39084956	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1054651	chr15:38827825-39082844	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542358	chr15:38827825-39082844	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4924292	EIF2AK4	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:38999600-39006000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr15:39001200-39006600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:39001200-39006600	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:39001200-39006600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:39001200-39006800	Weak transcription	Fetal Brain Male	brain
6	chr15:39001400-39006000	Weak transcription	HUVEC	blood vessel
7	chr15:39001400-39006400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:39001600-39006000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:39001600-39006000	Weak transcription	HSMMtube	muscle
10	chr15:39001800-39006000	Weak transcription	NH-A	brain
11	chr15:39005600-39008400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:39005600-39008400	Enhancers	HMEC	breast
13	chr15:39005600-39008600	Enhancers	HSMM	muscle
14	chr15:39005600-39008800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:39005800-39006000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:39005800-39006000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:39005800-39006400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:39005800-39006600	Enhancers	NHLF	lung
19	chr15:39005800-39006600	Enhancers	Osteobl	bone
20	chr15:39005800-39007200	Enhancers	NHDF-Ad	bronchial
21	chr15:39005800-39008000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:39005800-39008400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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