Variant report

Variant	rs9639521
Chromosome Location	chr7:25830647-25830648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10233419	0.86[EUR][1000 genomes]
rs11770089	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs122505	0.86[EUR][1000 genomes]
rs122506	0.97[ASN][1000 genomes]
rs1376526	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs166981	0.97[ASN][1000 genomes]
rs2214975	0.87[EUR][1000 genomes]
rs286688	0.86[EUR][1000 genomes]
rs286689	0.84[EUR][1000 genomes]
rs286690	0.86[EUR][1000 genomes]
rs286691	0.86[EUR][1000 genomes]
rs286694	0.86[EUR][1000 genomes]
rs286695	0.86[EUR][1000 genomes]
rs286696	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs286697	0.97[ASN][1000 genomes]
rs286699	0.97[ASN][1000 genomes]
rs7350035	0.86[EUR][1000 genomes]
rs7779030	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7798211	0.83[AFR][1000 genomes];0.86[EUR][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	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830928	chr7:25820147-25965014	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9639521	KLHL7	cis	cerebellum	SCAN
rs9639521	TOMM7	cis	parietal	SCAN
rs9639521	IL6	cis	cerebellum	SCAN
rs9639521	TRIL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25823000-25842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:25827400-25835200	Weak transcription	NHLF	lung
3	chr7:25827600-25835200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:25827800-25834600	Weak transcription	Aorta	Aorta
5	chr7:25827800-25835600	Weak transcription	Adipose Nuclei	Adipose
6	chr7:25828600-25834800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:25829400-25830800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:25829400-25830800	Enhancers	Fetal Kidney	kidney
9	chr7:25829600-25830800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:25829800-25831200	Enhancers	Colon Smooth Muscle	Colon
11	chr7:25829800-25831600	Enhancers	Fetal Stomach	stomach
12	chr7:25829800-25831600	Enhancers	Stomach Smooth Muscle	stomach
13	chr7:25829800-25834600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:25830200-25834400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:25830200-25835400	Weak transcription	Fetal Lung	lung
16	chr7:25830200-25842600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:25830400-25830800	Enhancers	Fetal Intestine Small	intestine
18	chr7:25830400-25835400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:25830600-25835200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:25830600-25835400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:25830600-25835400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:25830600-25835600	Weak transcription	NHDF-Ad	bronchial

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