Variant report

Variant	rs4934472
Chromosome Location	chr10:91074197-91074198
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: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10788641	0.91[EUR][1000 genomes]
rs10887942	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10887945	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10887946	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10887947	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10887948	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11203064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203065	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203078	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1141862	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12220939	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191027	0.83[EUR][1000 genomes]
rs304492	0.81[AMR][1000 genomes]
rs304501	0.82[EUR][1000 genomes]
rs304502	0.84[AMR][1000 genomes]
rs304503	0.84[AMR][1000 genomes]
rs304505	0.83[AMR][1000 genomes]
rs304506	0.83[AMR][1000 genomes]
rs304508	0.82[EUR][1000 genomes]
rs627127	0.81[EUR][1000 genomes]
rs627496	0.86[EUR][1000 genomes]
rs781501	0.92[AMR][1000 genomes]
rs812451	0.83[AMR][1000 genomes];0.86[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
rs4934472	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs4934472	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 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	chr10:91063800-91074200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:91064200-91086600	Weak transcription	Hela-S3	cervix
5	chr10:91066400-91074200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:91066600-91074200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:91066600-91074600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:91066600-91075400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:91067000-91074400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:91067200-91076000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:91067600-91076000	Weak transcription	Brain Anterior Caudate	brain
12	chr10:91067800-91074200	Weak transcription	Brain Angular Gyrus	brain
13	chr10:91067800-91074600	Weak transcription	Fetal Lung	lung
14	chr10:91069000-91074200	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:91069200-91074200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:91069400-91074200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:91069400-91076600	Weak transcription	Left Ventricle	heart
18	chr10:91073200-91074200	Weak transcription	Fetal Brain Male	brain
19	chr10:91073200-91076200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:91073400-91076200	Enhancers	Brain Cingulate Gyrus	brain
21	chr10:91073400-91076200	Enhancers	Brain Substantia Nigra	brain
22	chr10:91074000-91076000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr10:91074000-91076200	Enhancers	Brain Hippocampus Middle	brain

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