Variant report

Variant	rs11203070
Chromosome Location	chr10:91091414-91091415
allele	A/G
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	PAX5	chr10:91091241-91091573	GM12878	blood:	n/a	n/a
2	BHLHE40	chr10:91091306-91094227	GM12878	blood:	n/a	chr10:91092944-91092957
3	PAX5	chr10:91091335-91091526	GM12878	blood:	n/a	n/a
4	PAX5	chr10:91091254-91091629	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:91091015-91091472	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:91089877-91091493	GM19099	blood:	n/a	n/a
7	MAZ	chr10:91091370-91091417	GM12878	blood:	n/a	n/a
8	PAX5	chr10:91091103-91091762	GM12878	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: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10509571	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10509572	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10788642	0.83[AFR][1000 genomes]
rs10887950	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10887953	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11203063	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11203066	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11203072	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11203090	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11203099	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11203105	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11203106	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11203109	0.83[AFR][1000 genomes]
rs11203112	0.81[AFR][1000 genomes]
rs11819073	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12248331	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12255504	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12356008	0.81[AFR][1000 genomes]
rs12766862	0.83[AMR][1000 genomes]
rs12772449	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12781453	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332330	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1591051	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17096301	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17120001	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17120004	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2070845	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2274878	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34032344	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34234196	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34712773	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35830608	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35833529	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3740027	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3780878	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4339948	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59564102	0.82[ASN][1000 genomes]
rs6586182	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586183	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7073534	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7085361	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7088579	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7097569	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs71479013	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7897619	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7897873	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7910389	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7916812	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884407	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9733018	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[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
rs11203070	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91087200-91093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:91088000-91099800	Weak transcription	Gastric	stomach
3	chr10:91088200-91091800	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:91088200-91091800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:91088200-91092000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:91088200-91092000	Weak transcription	Aorta	Aorta
7	chr10:91088200-91092400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:91088200-91093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:91088200-91093400	Weak transcription	Esophagus	oesophagus
10	chr10:91088400-91091800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:91088400-91091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr10:91088400-91091800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr10:91088400-91092000	Enhancers	Fetal Intestine Large	intestine
14	chr10:91088400-91092200	Weak transcription	HMEC	breast
15	chr10:91088600-91091600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr10:91088600-91091800	Weak transcription	K562	blood
17	chr10:91088600-91092200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:91088800-91091800	Enhancers	Dnd41	blood
19	chr10:91088800-91092000	Weak transcription	A549	lung
20	chr10:91088800-91092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:91088800-91092200	Enhancers	Left Ventricle	heart
22	chr10:91088800-91092600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:91089000-91091800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:91089000-91091800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:91089000-91091800	Enhancers	Fetal Intestine Small	intestine
26	chr10:91089000-91091800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr10:91089000-91091800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:91089000-91091800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:91089000-91091800	Weak transcription	HSMMtube	muscle
30	chr10:91089000-91091800	Enhancers	NHDF-Ad	bronchial
31	chr10:91089000-91092000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:91089000-91092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:91089000-91092000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:91089000-91092200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:91089000-91092200	Weak transcription	Fetal Heart	heart
36	chr10:91089200-91091800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:91089200-91091800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:91089200-91091800	Enhancers	Primary hematopoietic stem cells	blood
39	chr10:91089200-91091800	Enhancers	Liver	Liver
40	chr10:91089200-91091800	Weak transcription	Fetal Kidney	kidney
41	chr10:91089200-91092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:91089200-91092000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:91089400-91091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:91089400-91091800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:91089400-91091800	Weak transcription	Fetal Stomach	stomach
46	chr10:91089400-91091800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr10:91089400-91091800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr10:91089400-91092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:91089600-91091800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr10:91089600-91091800	Enhancers	Adipose Nuclei	Adipose

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