Variant report

Variant	rs1332330
Chromosome Location	chr10:91088796-91088797
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:91088781-91089577	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:91087370-91089545	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:91087414-91089545	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91086403..91089519-chr10:91091273..91094339,4	K562	blood:

Variant related genes	Relation type
IFIT3	TF binding region
ENSG00000119917	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10509571	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs10509572	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10887950	0.85[CEU][hapmap]
rs10887953	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs10887959	0.80[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11203063	0.90[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11203066	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11203070	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11203072	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11203090	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11203099	0.95[CEU][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11203109	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs11203115	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11819073	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12244233	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs12248331	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12255504	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12772449	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1591051	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17096301	0.81[AMR][1000 genomes]
rs17120001	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17120004	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17120325	0.90[CEU][hapmap];0.86[JPT][hapmap]
rs17121248	0.80[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs2070845	0.86[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2274878	0.90[CEU][hapmap];0.81[AMR][1000 genomes]
rs34032344	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34234196	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34712773	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35830608	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740027	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3780878	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4339948	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs4630205	0.86[CEU][hapmap]
rs59564102	0.80[ASN][1000 genomes]
rs6586182	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6586183	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586188	0.82[CEU][hapmap]
rs7073534	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7085361	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7088579	0.95[CEU][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7090346	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs71479013	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7897619	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7897873	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7910389	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7916812	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs884407	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9733018	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1332330	IFIT5	cis	multi-tissue	Pritchard
rs1332330	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91086600-91089200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:91087000-91088800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:91087000-91088800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr10:91087000-91089000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr10:91087000-91089400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:91087000-91089600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr10:91087200-91088800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:91087200-91088800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr10:91087200-91088800	Active TSS	Right Atrium	heart
10	chr10:91087200-91088800	Flanking Active TSS	Dnd41	blood
11	chr10:91087200-91089000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr10:91087200-91093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:91087400-91088800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:91087400-91088800	Active TSS	Ovary	ovary
15	chr10:91087400-91089000	Enhancers	Fetal Heart	heart
16	chr10:91087400-91089600	Flanking Active TSS	Hela-S3	cervix
17	chr10:91087600-91088800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:91087600-91089000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:91087600-91089400	Active TSS	Rectal Smooth Muscle	rectum
20	chr10:91087800-91088800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:91087800-91089000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:91087800-91089000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr10:91087800-91089200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr10:91087800-91089400	Enhancers	Small Intestine	intestine
25	chr10:91088000-91088800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr10:91088000-91089000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:91088000-91089000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr10:91088000-91089200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr10:91088000-91089200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr10:91088000-91089400	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr10:91088000-91089600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr10:91088000-91089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:91088000-91090200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:91088000-91091000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr10:91088000-91091200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr10:91088000-91099800	Weak transcription	Gastric	stomach
37	chr10:91088200-91088800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:91088200-91088800	Active TSS	Placenta	Placenta
39	chr10:91088200-91088800	Weak transcription	Left Ventricle	heart
40	chr10:91088200-91088800	Weak transcription	Lung	lung
41	chr10:91088200-91089000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:91088200-91089000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:91088200-91089000	Flanking Active TSS	Fetal Kidney	kidney
44	chr10:91088200-91089000	Flanking Active TSS	Fetal Lung	lung
45	chr10:91088200-91089000	Flanking Active TSS	HSMM	muscle
46	chr10:91088200-91089000	Enhancers	NHEK	skin
47	chr10:91088200-91089200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr10:91088200-91089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr10:91088200-91089200	Weak transcription	Colonic Mucosa	Colon
50	chr10:91088200-91089400	Enhancers	Primary T cells fromperipheralblood	blood

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