Variant report

Variant	rs304497
Chromosome Location	chr10:91146950-91146951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10887946	0.81[AMR][1000 genomes]
rs10887947	0.81[AMR][1000 genomes]
rs188589	0.80[EUR][1000 genomes]
rs188591	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2484046	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2484047	0.80[AMR][1000 genomes]
rs303171	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs303209	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs303210	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs303213	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs303215	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs303216	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs303218	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs304434	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs304436	0.83[EUR][1000 genomes]
rs304437	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304441	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304442	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304450	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs304492	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs304500	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs304502	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs304503	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs304505	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs304506	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781501	0.82[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs304497	IFIT5	cis	Artery Tibial	GTEx
rs304497	IFIT5	cis	Nerve Tibial	GTEx
rs304497	IFIT5	cis	Esophagus Muscularis	GTEx
rs304497	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs304497	IFIT5	cis	Esophagus Mucosa	GTEx
rs304497	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91135000-91150200	Weak transcription	Fetal Brain Male	brain
2	chr10:91141000-91150000	Weak transcription	Fetal Heart	heart
3	chr10:91145400-91151000	Weak transcription	GM12878-XiMat	blood
4	chr10:91145400-91151800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:91145600-91148800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:91145600-91151600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:91145800-91151600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr10:91146000-91151400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:91146200-91151400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:91146200-91151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr10:91146200-91152400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:91146400-91150200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:91146400-91150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:91146400-91151600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:91146600-91148600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:91146600-91149000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:91146600-91152000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:91146800-91151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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