Variant report

Variant	rs13224916
Chromosome Location	chr7:27555348-27555349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1000317	0.94[EUR][1000 genomes]
rs12534656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12539472	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13227521	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13232561	0.84[EUR][1000 genomes]
rs13236908	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13241127	0.96[EUR][1000 genomes]
rs34578407	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35733141	0.80[AMR][1000 genomes]
rs35816118	0.95[EUR][1000 genomes]
rs35925990	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4719896	0.97[EUR][1000 genomes]
rs4719901	0.96[EUR][1000 genomes]
rs71539523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71539525	0.96[EUR][1000 genomes]
rs71539526	0.94[EUR][1000 genomes]
rs71539527	0.93[EUR][1000 genomes]
rs71539529	0.91[EUR][1000 genomes]
rs71555704	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13224916	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27539400-27558000	Weak transcription	Fetal Stomach	stomach
2	chr7:27549200-27561200	Weak transcription	Liver	Liver
3	chr7:27550400-27555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:27550600-27555400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:27550600-27555600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:27550600-27555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:27550600-27555600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:27550600-27555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:27550600-27563400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:27550800-27555800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:27551200-27563800	Weak transcription	Left Ventricle	heart
12	chr7:27551600-27563800	Weak transcription	Placenta	Placenta
13	chr7:27552600-27564800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:27552600-27568200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:27552800-27555600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:27552800-27557000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:27553000-27555600	Weak transcription	Fetal Lung	lung
18	chr7:27553000-27563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:27553200-27581000	Weak transcription	Fetal Heart	heart
20	chr7:27553600-27557000	Weak transcription	Primary T cells from cord blood	blood
21	chr7:27553600-27564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:27553800-27564600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:27554000-27556000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:27554400-27564000	Weak transcription	K562	blood
25	chr7:27554800-27558000	Weak transcription	HepG2	liver
26	chr7:27554800-27558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:27555000-27568600	Weak transcription	Brain Cingulate Gyrus	brain

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