Variant report

Variant	rs7995074
Chromosome Location	chr13:39886229-39886230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2875297	1.00[EUR][1000 genomes]
rs73465621	0.96[EUR][1000 genomes]
rs747184	1.00[EUR][1000 genomes]
rs747185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000195	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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
rs7995074	LHFP	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39883600-39886600	Enhancers	HSMMtube	muscle
2	chr13:39885200-39886400	Enhancers	Fetal Muscle Leg	muscle
3	chr13:39885200-39886400	Enhancers	Left Ventricle	heart
4	chr13:39885200-39888400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:39885600-39886400	Enhancers	HMEC	breast
6	chr13:39885800-39886400	Enhancers	Aorta	Aorta
7	chr13:39885800-39886400	Enhancers	Fetal Muscle Trunk	muscle
8	chr13:39885800-39886600	Enhancers	Fetal Heart	heart
9	chr13:39885800-39890800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:39886200-39887800	Weak transcription	NHEK	skin
11	chr13:39886200-39890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:39886200-39890800	Weak transcription	Right Atrium	heart
13	chr13:39886200-39891200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:39886200-39891400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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