Variant report

Variant	rs975686
Chromosome Location	chr10:91074259-91074260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91073444..91076230-chr10:91086280..91088902,2	K562	blood:

Variant related genes	Relation type
ENSG00000119917	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10159774	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10749605	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10749606	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10749607	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10887943	0.95[ASN][1000 genomes]
rs1888923	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303217	0.83[AMR][1000 genomes]
rs304478	0.83[AMR][1000 genomes]
rs304494	0.85[AMR][1000 genomes]
rs304495	0.85[AMR][1000 genomes]
rs304504	0.85[AMR][1000 genomes]
rs305371	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs305373	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs305375	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs305376	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs305377	0.88[AMR][1000 genomes]
rs4933504	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4934471	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4934473	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4934475	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs627524	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6586184	0.88[AMR][1000 genomes]
rs7094510	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7095398	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs954439	0.91[AMR][1000 genomes];0.87[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs975686	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx
rs975686	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91063200-91074600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:91063200-91076000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:91064200-91086600	Weak transcription	Hela-S3	cervix
4	chr10:91066600-91074600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:91066600-91075400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:91067000-91074400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:91067200-91076000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:91067600-91076000	Weak transcription	Brain Anterior Caudate	brain
9	chr10:91067800-91074600	Weak transcription	Fetal Lung	lung
10	chr10:91069400-91076600	Weak transcription	Left Ventricle	heart
11	chr10:91073200-91076200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:91073400-91076200	Enhancers	Brain Cingulate Gyrus	brain
13	chr10:91073400-91076200	Enhancers	Brain Substantia Nigra	brain
14	chr10:91074000-91076000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:91074000-91076200	Enhancers	Brain Hippocampus Middle	brain
16	chr10:91074200-91074400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:91074200-91074400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:91074200-91074400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr10:91074200-91075000	Enhancers	Fetal Brain Male	brain
20	chr10:91074200-91075400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:91074200-91076000	Enhancers	Brain Angular Gyrus	brain

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