Variant report

Variant	rs304448
Chromosome Location	chr10:91178000-91178001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10159774	0.85[CEU][hapmap]
rs10749606	0.85[CEU][hapmap]
rs10749607	0.85[CEU][hapmap]
rs215493	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2458877	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2484045	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs303169	0.82[CEU][hapmap]
rs303170	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303172	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs303174	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs303217	0.89[CEU][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs304439	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304440	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304443	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304449	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304451	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304478	0.89[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs304483	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs304485	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs304494	0.82[EUR][1000 genomes]
rs304495	0.89[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs304504	0.89[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs305371	0.84[CEU][hapmap]
rs305375	0.85[CEU][hapmap]
rs305377	0.89[JPT][hapmap]
rs4934475	0.84[CEU][hapmap]
rs559198	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627524	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs304448	IFIT5	cis	Artery Tibial	GTEx
rs304448	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx
rs304448	IFIT5	cis	cerebellum	SCAN
rs304448	IFIT5	cis	Nerve Tibial	GTEx

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91175400-91178800	Weak transcription	Gastric	stomach
2	chr10:91175400-91180200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:91175400-91187600	Weak transcription	HUVEC	blood vessel
4	chr10:91175600-91178000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:91175600-91179600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr10:91175600-91181200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr10:91175600-91181200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:91175600-91183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:91175600-91188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:91175600-91191800	Weak transcription	Psoas Muscle	Psoas
11	chr10:91175600-91191800	Weak transcription	Hela-S3	cervix
12	chr10:91175800-91178000	Weak transcription	Stomach Mucosa	stomach
13	chr10:91175800-91179600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:91175800-91182600	Weak transcription	Thymus	Thymus
15	chr10:91176000-91178400	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr10:91176000-91178400	Genic enhancers	Fetal Muscle Leg	muscle
17	chr10:91176000-91179600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr10:91176000-91180000	Weak transcription	Colonic Mucosa	Colon
19	chr10:91176200-91178000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:91176200-91179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:91176200-91186400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:91176400-91178000	Enhancers	Brain Cingulate Gyrus	brain
23	chr10:91176600-91178200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr10:91176600-91178400	Strong transcription	Fetal Thymus	thymus
25	chr10:91176600-91178400	Strong transcription	HSMM	muscle
26	chr10:91176600-91179400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:91176600-91182800	Weak transcription	Esophagus	oesophagus
28	chr10:91177000-91178000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:91177000-91178200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr10:91177000-91178400	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr10:91177000-91178400	Genic enhancers	Duodenum Mucosa	Duodenum
32	chr10:91177000-91178400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:91177000-91178400	Strong transcription	Osteobl	bone
34	chr10:91177000-91178600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr10:91177000-91178600	Strong transcription	NH-A	brain
36	chr10:91177000-91178800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:91177000-91179200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr10:91177000-91181400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:91177200-91178000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:91177200-91178000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
41	chr10:91177200-91178000	Strong transcription	HMEC	breast
42	chr10:91177200-91178200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:91177200-91178200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:91177200-91178200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr10:91177200-91178200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:91177200-91178200	Genic enhancers	Aorta	Aorta
47	chr10:91177200-91178200	Genic enhancers	Liver	Liver
48	chr10:91177200-91178200	Enhancers	Fetal Heart	heart
49	chr10:91177200-91178200	Enhancers	Spleen	Spleen
50	chr10:91177200-91178200	Strong transcription	NHEK	skin

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