Variant report

Variant	rs7030326
Chromosome Location	chr9:97165108-97165109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10115864	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10122398	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10125744	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10283669	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061835	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993191	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993194	0.85[ASN][1000 genomes]
rs12338572	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12341403	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343123	0.90[ASN][1000 genomes]
rs28567659	0.80[ASN][1000 genomes]
rs28704121	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28802403	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55936246	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55962682	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56165201	0.80[ASN][1000 genomes]
rs56404236	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6479541	0.87[ASN][1000 genomes]
rs6479545	0.81[ASN][1000 genomes]
rs7024607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7025878	0.83[ASN][1000 genomes]
rs7030967	0.90[ASN][1000 genomes]
rs7034153	0.81[ASN][1000 genomes]
rs7036474	0.85[ASN][1000 genomes]
rs7037298	0.81[ASN][1000 genomes]
rs7040774	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7041219	0.81[ASN][1000 genomes]
rs7045712	0.88[ASN][1000 genomes]
rs7046779	0.88[ASN][1000 genomes]
rs7856786	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859955	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9632920	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv982324	chr9:97139062-97200156	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7030326	HIATL1	cis	Adipose Subcutaneous	GTEx
rs7030326	RP11-307E17.8	cis	Esophagus Muscularis	GTEx
rs7030326	HIATL1	Cis_1M	lymphoblastoid	RTeQTL
rs7030326	HIATL1	cis	Nerve Tibial	GTEx
rs7030326	HIATL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7030326	HIATL1	cis	Esophagus Mucosa	GTEx
rs7030326	HIATL1	cis	lung	GTEx
rs7030326	HIATL1	cis	Thyroid	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97138800-97168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97148800-97165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr9:97150000-97166200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:97151400-97175600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:97153800-97182200	Weak transcription	NHEK	skin
6	chr9:97157000-97166400	Weak transcription	A549	lung
7	chr9:97157600-97165600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:97158000-97203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:97160200-97171600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:97160200-97182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:97160200-97183400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:97160400-97203600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:97160600-97170400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr9:97160800-97177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:97163200-97166000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:97164400-97185200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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