Variant report

Variant	rs7325323
Chromosome Location	chr13:39891324-39891325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1175904	0.88[EUR][1000 genomes]
rs17529365	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025411	0.80[EUR][1000 genomes]
rs2147129	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181758	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73173441	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7984781	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548737	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548739	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9594326	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603525	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs987847	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7325323	LHFP	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39886200-39891400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:39886400-39896600	Weak transcription	Aorta	Aorta
3	chr13:39888000-39891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:39889000-39891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:39890200-39892200	Enhancers	Adipose Nuclei	Adipose
6	chr13:39890600-39891800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr13:39890600-39894400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:39890800-39891400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:39890800-39891600	Enhancers	Colon Smooth Muscle	Colon
10	chr13:39890800-39891800	Enhancers	Rectal Smooth Muscle	rectum
11	chr13:39890800-39892000	Enhancers	Brain Hippocampus Middle	brain
12	chr13:39890800-39892000	Enhancers	Right Atrium	heart
13	chr13:39890800-39892200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:39890800-39892200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr13:39890800-39892200	Enhancers	Fetal Lung	lung
16	chr13:39890800-39892200	Enhancers	NHLF	lung
17	chr13:39891000-39891600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:39891000-39891600	Enhancers	Fetal Muscle Trunk	muscle
19	chr13:39891000-39891600	Enhancers	Lung	lung
20	chr13:39891000-39891600	Enhancers	Right Ventricle	heart
21	chr13:39891000-39891600	Enhancers	HSMMtube	muscle
22	chr13:39891000-39891800	Enhancers	Brain Angular Gyrus	brain
23	chr13:39891000-39891800	Enhancers	Brain Anterior Caudate	brain
24	chr13:39891000-39891800	Enhancers	Left Ventricle	heart
25	chr13:39891000-39892000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:39891000-39892000	Enhancers	Brain Substantia Nigra	brain
27	chr13:39891000-39892000	Enhancers	Stomach Smooth Muscle	stomach
28	chr13:39891000-39892200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:39891000-39892600	Enhancers	Fetal Muscle Leg	muscle
30	chr13:39891000-39892600	Enhancers	Ovary	ovary
31	chr13:39891000-39899200	Weak transcription	Fetal Heart	heart
32	chr13:39891200-39892000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:39891200-39892000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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