Variant report

Variant	rs11203115
Chromosome Location	chr10:91173397-91173398
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	POLR2A	chr10:91173147-91175624	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:91173355-91175521	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91172637..91174188-chr10:91459994..91461922,2	MCF-7	breast:

Variant related genes	Relation type
IFIT5	TF binding region
ENSG00000138182	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10509572	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.95[YRI][hapmap];0.88[ASN][1000 genomes]
rs10788642	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10887950	0.90[CEU][hapmap];0.89[CHD][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10887953	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10887957	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10887959	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11203063	0.87[JPT][hapmap];0.92[LWK][hapmap];0.85[YRI][hapmap]
rs11203072	0.84[ASN][1000 genomes]
rs11203090	0.88[ASN][1000 genomes]
rs11203099	0.90[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs11203105	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11203106	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11203109	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11203112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11203119	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11819073	0.91[ASN][1000 genomes]
rs12244233	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap]
rs12248331	0.84[ASN][1000 genomes]
rs12255504	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs12356008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12781453	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12781505	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1332330	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs1591051	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.90[ASN][1000 genomes]
rs17120001	0.88[ASN][1000 genomes]
rs17120004	0.88[ASN][1000 genomes]
rs17120325	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs17121248	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2274878	0.81[LWK][hapmap]
rs303212	0.90[YRI][hapmap]
rs34234196	0.88[ASN][1000 genomes]
rs34712773	0.82[ASN][1000 genomes]
rs35359667	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35830608	0.88[ASN][1000 genomes]
rs3740027	0.82[LWK][hapmap]
rs3780878	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.95[LWK][hapmap];0.81[MEX][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs6586182	0.81[ASN][1000 genomes]
rs6586183	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.87[LWK][hapmap];0.82[ASN][1000 genomes]
rs6586196	0.81[CEU][hapmap]
rs7073534	0.81[ASN][1000 genomes]
rs7085361	0.81[ASN][1000 genomes]
rs7088579	0.90[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs7090346	0.90[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71479013	0.88[ASN][1000 genomes]
rs7897619	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.87[LWK][hapmap];0.82[ASN][1000 genomes]
rs7897873	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7910389	0.82[ASN][1000 genomes]
rs7916812	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];0.84[ASN][1000 genomes]
rs884407	0.90[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	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
5	nsv819719	chr10:91165763-91174600	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11203115	IFIT5	cis	multi-tissue	Pritchard
rs11203115	IFIT1B	cis	lymphoblastoid	seeQTL
rs11203115	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs11203115	IFIT1	cis	lymphoblastoid	seeQTL
rs11203115	CH25H	cis	cerebellum	SCAN
rs11203115	C10orf116	cis	cerebellum	SCAN
rs11203115	IFIT5	cis	lymphoblastoid	seeQTL
rs11203115	C11orf9	trans	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91152800-91173600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:91152800-91174000	Weak transcription	Gastric	stomach
3	chr10:91153200-91173600	Weak transcription	Brain Germinal Matrix	brain
4	chr10:91153600-91173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:91154200-91173400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:91154200-91173400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:91155400-91173600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:91156400-91174000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:91161600-91173600	Weak transcription	Fetal Brain Female	brain
10	chr10:91162400-91173600	Weak transcription	HSMMtube	muscle
11	chr10:91162800-91173400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:91162800-91173400	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:91162800-91173600	Weak transcription	Aorta	Aorta
14	chr10:91162800-91173800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:91163000-91173600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:91163000-91173600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:91163000-91173800	Weak transcription	Psoas Muscle	Psoas
18	chr10:91163400-91173400	Weak transcription	Left Ventricle	heart
19	chr10:91163600-91173400	Weak transcription	Hela-S3	cervix
20	chr10:91164200-91173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:91164200-91173400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:91164200-91173600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:91164200-91173600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:91164400-91173400	Weak transcription	Brain Anterior Caudate	brain
25	chr10:91164400-91173600	Weak transcription	Stomach Mucosa	stomach
26	chr10:91164600-91173600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:91164600-91173600	Weak transcription	Adipose Nuclei	Adipose
28	chr10:91164600-91173600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:91164600-91173600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:91164600-91173600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:91164600-91173600	Weak transcription	NHLF	lung
32	chr10:91164600-91173800	Weak transcription	Ovary	ovary
33	chr10:91164600-91174000	Weak transcription	Lung	lung
34	chr10:91164600-91174000	Weak transcription	Pancreas	Pancrea
35	chr10:91164800-91173400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:91165000-91173400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:91165000-91173400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:91165000-91173600	Weak transcription	Brain Substantia Nigra	brain
39	chr10:91166200-91173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:91167000-91173800	Weak transcription	Right Ventricle	heart
41	chr10:91167200-91173400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:91168800-91173800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:91169400-91173400	Weak transcription	Liver	Liver
44	chr10:91170600-91173600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:91171600-91173400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:91172200-91173400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr10:91172200-91173600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr10:91172200-91173600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:91172200-91173800	Flanking Active TSS	Dnd41	blood
50	chr10:91172400-91173400	Enhancers	Primary T cells from cord blood	blood

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