Variant report

Variant	rs11819073
Chromosome Location	chr10:91133008-91133009
allele	C/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	FOXA1	chr10:91132996-91133572	HepG2	liver:	n/a	chr10:91133289-91133304
2	MYBL2	chr10:91132921-91133554	HepG2	liver:	n/a	n/a
3	FOXA1	chr10:91132983-91133502	HepG2	liver:	n/a	chr10:91133289-91133304
4	NFIC	chr10:91133008-91133536	HepG2	liver:	n/a	n/a
5	GATA3	chr10:91132756-91133602	MCF-7	breast:	n/a	chr10:91133191-91133204
6	EP300	chr10:91133001-91133560	HepG2	liver:	n/a	chr10:91133290-91133300
7	SP1	chr10:91132993-91133547	HepG2	liver:	n/a	n/a
8	FOXA2	chr10:91132932-91134494	HepG2	liver:	n/a	n/a
9	HDAC2	chr10:91132999-91133546	HepG2	liver:	n/a	chr10:91133291-91133300
10	FOXA1	chr10:91132985-91133588	HepG2	liver:	n/a	chr10:91133289-91133304
11	RXRA	chr10:91132988-91133534	HepG2	liver:	n/a	chr10:91133325-91133339 chr10:91133325-91133338 chr10:91133325-91133338 chr10:91133321-91133341 chr10:91133325-91133338

Variant related genes	Relation type
IFIT1B	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10509571	0.81[AMR][1000 genomes]
rs10509572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10788642	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10887950	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10887953	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10887957	0.90[ASN][1000 genomes]
rs10887959	0.82[ASN][1000 genomes]
rs11203063	0.83[AMR][1000 genomes]
rs11203066	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11203070	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11203072	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11203090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11203099	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11203105	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11203106	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11203109	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11203112	0.84[ASN][1000 genomes]
rs11203115	0.91[ASN][1000 genomes]
rs11203119	0.80[ASN][1000 genomes]
rs12248331	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12255504	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12356008	0.88[ASN][1000 genomes]
rs12772449	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12781453	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12781505	0.83[ASN][1000 genomes]
rs1332330	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1591051	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17096301	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17120001	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17120004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17121248	0.81[ASN][1000 genomes]
rs2070845	0.87[AMR][1000 genomes]
rs2274878	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34032344	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34234196	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34712773	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35830608	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35833529	0.88[AMR][1000 genomes]
rs3740027	0.84[AMR][1000 genomes]
rs3780878	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4339948	0.81[AMR][1000 genomes]
rs6586182	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6586183	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7073534	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7085361	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7088579	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097569	0.88[AMR][1000 genomes]
rs71479013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7897619	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7897873	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7910389	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7916812	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs884407	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9733018	0.85[AMR][1000 genomes];0.82[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11819073	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 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	chr10:91129200-91133200	Weak transcription	Ovary	ovary
8	chr10:91129200-91133200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:91129200-91133200	Weak transcription	NHLF	lung
10	chr10:91129200-91133800	Weak transcription	Aorta	Aorta
11	chr10:91129200-91133800	Weak transcription	Psoas Muscle	Psoas
12	chr10:91129200-91134400	Weak transcription	Lung	lung
13	chr10:91129400-91133200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:91129400-91133200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:91129400-91133200	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:91129400-91133200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:91129400-91133200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:91129400-91133200	Weak transcription	Fetal Stomach	stomach
19	chr10:91129400-91133200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr10:91129400-91133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:91129400-91133200	Weak transcription	HSMM	muscle
22	chr10:91129400-91133200	Weak transcription	NHDF-Ad	bronchial
23	chr10:91129400-91133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:91129400-91133600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:91129400-91133800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:91129400-91133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:91129400-91133800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:91129400-91134400	Weak transcription	Left Ventricle	heart
29	chr10:91129400-91138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:91129600-91133200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:91129600-91133200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:91129600-91133200	Weak transcription	Brain Anterior Caudate	brain
33	chr10:91129600-91133200	Weak transcription	Osteobl	bone
34	chr10:91129800-91133200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:91129800-91133200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:91129800-91133200	Weak transcription	Brain Angular Gyrus	brain
37	chr10:91129800-91133200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:91129800-91133200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr10:91129800-91133200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:91129800-91133200	Weak transcription	Brain Substantia Nigra	brain
41	chr10:91129800-91133400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:91129800-91134200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:91129800-91134200	Weak transcription	Placenta	Placenta
44	chr10:91130000-91133200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:91130600-91134800	Enhancers	Primary hematopoietic stem cells	blood
46	chr10:91130600-91135800	Enhancers	Liver	Liver
47	chr10:91130800-91135800	Enhancers	Fetal Heart	heart
48	chr10:91131000-91135400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:91131200-91135200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:91131600-91133200	Weak transcription	HSMMtube	muscle

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