Variant report

Variant	rs305377
Chromosome Location	chr10:91131132-91131133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10159774	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10509570	1.00[YRI][hapmap]
rs10749606	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10749607	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10887943	1.00[YRI][hapmap]
rs160052	1.00[YRI][hapmap]
rs1888923	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs215493	0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2484045	0.80[AMR][1000 genomes]
rs303172	0.84[JPT][hapmap]
rs303174	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs303217	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs304439	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs304440	0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs304448	0.89[JPT][hapmap]
rs304449	0.89[JPT][hapmap];1.00[YRI][hapmap]
rs304451	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs304478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs304483	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs304485	0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs304494	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304504	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs305371	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs305373	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs305375	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs305376	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4933504	0.86[AMR][1000 genomes]
rs4934471	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4934473	0.89[AMR][1000 genomes]
rs4934475	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs627524	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6586184	0.85[AMR][1000 genomes]
rs954439	0.80[AMR][1000 genomes]
rs975686	0.88[AMR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs305377	IFIT5	cis	Artery Tibial	GTEx
rs305377	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx
rs305377	IFIT5	cis	Nerve Tibial	GTEx
rs305377	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91119600-91133800	Weak transcription	Pancreas	Pancrea
2	chr10:91127800-91133400	Weak transcription	Fetal Kidney	kidney
3	chr10:91127800-91134200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:91128200-91133200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:91128200-91133800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:91128200-91133800	Weak transcription	Small Intestine	intestine
7	chr10:91129200-91131800	Weak transcription	Right Atrium	heart
8	chr10:91129200-91133200	Weak transcription	Ovary	ovary
9	chr10:91129200-91133200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:91129200-91133200	Weak transcription	NHLF	lung
11	chr10:91129200-91133800	Weak transcription	Aorta	Aorta
12	chr10:91129200-91133800	Weak transcription	Psoas Muscle	Psoas
13	chr10:91129200-91134400	Weak transcription	Lung	lung
14	chr10:91129400-91131600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:91129400-91131600	Weak transcription	Fetal Lung	lung
16	chr10:91129400-91132400	Weak transcription	Adipose Nuclei	Adipose
17	chr10:91129400-91132400	Weak transcription	Hela-S3	cervix
18	chr10:91129400-91133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:91129400-91133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:91129400-91133000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:91129400-91133200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:91129400-91133200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:91129400-91133200	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:91129400-91133200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:91129400-91133200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:91129400-91133200	Weak transcription	Fetal Stomach	stomach
27	chr10:91129400-91133200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:91129400-91133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:91129400-91133200	Weak transcription	HSMM	muscle
30	chr10:91129400-91133200	Weak transcription	NHDF-Ad	bronchial
31	chr10:91129400-91133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:91129400-91133600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr10:91129400-91133800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:91129400-91133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:91129400-91133800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr10:91129400-91134400	Weak transcription	Left Ventricle	heart
37	chr10:91129400-91138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr10:91129600-91131800	Weak transcription	Brain Hippocampus Middle	brain
39	chr10:91129600-91133200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:91129600-91133200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:91129600-91133200	Weak transcription	Brain Anterior Caudate	brain
42	chr10:91129600-91133200	Weak transcription	Osteobl	bone
43	chr10:91129800-91131200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:91129800-91131600	Weak transcription	Fetal Intestine Large	intestine
45	chr10:91129800-91133000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:91129800-91133000	Weak transcription	Fetal Intestine Small	intestine
47	chr10:91129800-91133200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:91129800-91133200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:91129800-91133200	Weak transcription	Brain Angular Gyrus	brain
50	chr10:91129800-91133200	Weak transcription	Brain Cingulate Gyrus	brain

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