Variant report

Variant	rs303213
Chromosome Location	chr10:91161082-91161083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs184236	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs188589	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs188591	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2484046	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2484047	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303171	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs303173	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303209	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs303210	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs303215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs303216	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs303218	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304411	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs304412	0.84[AMR][1000 genomes]
rs304413	0.81[AMR][1000 genomes]
rs304434	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs304436	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304437	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs304441	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs304442	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs304447	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs304450	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304492	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304497	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs304500	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs304502	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304503	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304505	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304506	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs781501	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
rs303213	IFIT5	cis	Nerve Tibial	GTEx
rs303213	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs303213	IFIT5	cis	Esophagus Mucosa	GTEx
rs303213	IFIT5	cis	Esophagus Muscularis	GTEx
rs303213	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs303213	IFIT5	cis	Artery Tibial	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91152800-91173600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:91152800-91174000	Weak transcription	Gastric	stomach
3	chr10:91153000-91164200	Weak transcription	Esophagus	oesophagus
4	chr10:91153200-91162000	Weak transcription	HSMM	muscle
5	chr10:91153200-91163800	Weak transcription	Spleen	Spleen
6	chr10:91153200-91173600	Weak transcription	Brain Germinal Matrix	brain
7	chr10:91153400-91162200	Weak transcription	Placenta	Placenta
8	chr10:91153400-91162200	Weak transcription	Lung	lung
9	chr10:91153400-91163400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:91153400-91164000	Weak transcription	Pancreas	Pancrea
11	chr10:91153400-91172400	Weak transcription	Thymus	Thymus
12	chr10:91153600-91162200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr10:91153600-91162200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:91153600-91165400	Weak transcription	Fetal Thymus	thymus
15	chr10:91153600-91173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:91154000-91162200	Weak transcription	Primary T cells from cord blood	blood
17	chr10:91154000-91162200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:91154000-91162200	Weak transcription	Fetal Stomach	stomach
19	chr10:91154000-91162400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:91154000-91164200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr10:91154000-91166800	Weak transcription	Right Ventricle	heart
22	chr10:91154200-91161800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:91154200-91162000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:91154200-91162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:91154200-91162200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:91154200-91162200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr10:91154200-91164000	Weak transcription	Right Atrium	heart
28	chr10:91154200-91172400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr10:91154200-91173200	Weak transcription	Primary B cells from cord blood	blood
30	chr10:91154200-91173400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:91154200-91173400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:91154600-91162200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:91154600-91173000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:91154800-91163400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:91155200-91161800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr10:91155200-91162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:91155200-91162200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:91155200-91162200	Weak transcription	Aorta	Aorta
39	chr10:91155200-91162200	Weak transcription	Brain Anterior Caudate	brain
40	chr10:91155200-91162200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr10:91155200-91162200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:91155200-91164000	Weak transcription	Brain Angular Gyrus	brain
43	chr10:91155200-91173200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr10:91155400-91162000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr10:91155400-91162200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:91155400-91162200	Weak transcription	Brain Hippocampus Middle	brain
47	chr10:91155400-91162200	Weak transcription	Brain Substantia Nigra	brain
48	chr10:91155400-91162200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr10:91155400-91162400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:91155400-91162600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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