Variant report

Variant	rs305373
Chromosome Location	chr10:91107742-91107743
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	chr10:91092080..91094620-chr10:91107568..91109976,3	K562	blood:

Variant related genes	Relation type
ENSG00000119917	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10159774	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10749606	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10749607	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1888923	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs215493	0.81[AMR][1000 genomes]
rs303174	0.81[AMR][1000 genomes]
rs303217	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304439	0.81[AMR][1000 genomes]
rs304440	0.81[AMR][1000 genomes]
rs304478	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs304483	0.82[AMR][1000 genomes]
rs304485	0.81[AMR][1000 genomes]
rs304494	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs304495	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs304504	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs305371	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs305375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs305376	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs305377	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4933504	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4934471	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4934473	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4934475	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs627524	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6586184	0.85[AMR][1000 genomes]
rs7094510	0.80[EUR][1000 genomes]
rs954439	0.80[AMR][1000 genomes]
rs975686	0.88[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs305373	IFIT5	cis	Artery Tibial	GTEx
rs305373	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs305373	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91094000-91110200	Weak transcription	Colonic Mucosa	Colon
2	chr10:91094000-91112000	Weak transcription	Esophagus	oesophagus
3	chr10:91094200-91108400	Weak transcription	Stomach Mucosa	stomach
4	chr10:91095200-91110400	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:91098800-91111200	Weak transcription	Aorta	Aorta
6	chr10:91099400-91107800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:91099400-91111000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:91099600-91110400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:91099600-91110800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:91099800-91110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:91099800-91111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:91100000-91110400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:91100000-91111000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:91100600-91110400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:91101200-91110000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:91101200-91111200	Weak transcription	Ovary	ovary
17	chr10:91101600-91110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:91102600-91110400	Weak transcription	NH-A	brain
19	chr10:91102800-91110400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:91105000-91112400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:91105400-91108000	Enhancers	Hela-S3	cervix
22	chr10:91105400-91108400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:91105400-91109000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr10:91105400-91109000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr10:91105400-91109000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:91105400-91109200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr10:91105400-91109400	Enhancers	HepG2	liver
28	chr10:91105400-91109800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:91105600-91108200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:91105600-91108600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:91105600-91109400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:91105600-91109600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:91105600-91111200	Enhancers	Liver	Liver
34	chr10:91105600-91111200	Enhancers	Fetal Intestine Small	intestine
35	chr10:91105600-91111400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr10:91105600-91112400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:91105800-91113200	Enhancers	Fetal Intestine Large	intestine
38	chr10:91106000-91108200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:91106000-91108200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:91106000-91108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:91106000-91108800	Enhancers	NHDF-Ad	bronchial
42	chr10:91106000-91109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:91106000-91110800	Enhancers	Adipose Nuclei	Adipose
44	chr10:91106000-91112600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:91106200-91108400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:91106200-91108400	Enhancers	Fetal Brain Male	brain
47	chr10:91106200-91108400	Enhancers	Fetal Stomach	stomach
48	chr10:91106200-91108400	Enhancers	Osteobl	bone
49	chr10:91106200-91108800	Enhancers	Brain Substantia Nigra	brain
50	chr10:91106200-91108800	Enhancers	Skeletal Muscle Male	skeletal muscle

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