Variant report

Variant	rs55869080
Chromosome Location	chr9:97314473-97314474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10115132	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10120467	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3852401	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4744354	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55983816	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56404355	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7025414	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73653487	0.88[EUR][1000 genomes];0.89[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	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv893595	chr9:97268182-97330693	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv972786	chr9:97308737-97320211	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs55869080	HIATL1	cis	lung	GTEx
rs55869080	HIATL1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97297200-97315000	Weak transcription	HepG2	liver
2	chr9:97302600-97315000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:97304800-97315200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:97311600-97315200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:97312000-97315600	Weak transcription	A549	lung
6	chr9:97313000-97316800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:97313200-97315000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:97313200-97316600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:97313400-97315600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:97313600-97316000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:97313800-97315400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:97313800-97315800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:97314200-97315200	Enhancers	Liver	Liver
14	chr9:97314200-97315400	Weak transcription	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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