Variant report

Variant	rs188591
Chromosome Location	chr10:91138330-91138331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs184236	0.89[EUR][1000 genomes]
rs188589	0.89[EUR][1000 genomes]
rs2484046	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2484047	0.89[EUR][1000 genomes]
rs303171	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs303173	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs303209	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs303210	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs303213	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs303215	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs303216	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs303218	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304411	0.87[EUR][1000 genomes]
rs304434	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs304436	0.92[EUR][1000 genomes]
rs304437	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs304441	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs304442	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs304447	0.88[EUR][1000 genomes]
rs304450	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs304492	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs304493	0.85[EUR][1000 genomes]
rs304497	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs304498	0.85[EUR][1000 genomes]
rs304500	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304502	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs304503	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs304505	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs304506	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs781501	0.86[AMR][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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs188591	IFIT5	cis	Esophagus Mucosa	GTEx
rs188591	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs188591	IFIT5	cis	Artery Tibial	GTEx
rs188591	IFIT5	cis	Nerve Tibial	GTEx
rs188591	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs188591	IFIT5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91134800-91142600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:91135000-91150200	Weak transcription	Fetal Brain Male	brain
3	chr10:91135800-91140800	Weak transcription	Fetal Heart	heart
4	chr10:91137400-91138800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:91137600-91138800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:91137800-91138600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:91138000-91138400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr10:91138000-91138600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:91138000-91138600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr10:91138200-91138400	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links