Variant report

Variant	rs304442
Chromosome Location	chr10:91171972-91171973
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	NFYB	chr10:91171893-91172434	K562	blood:	n/a	chr10:91172204-91172219
2	SP1	chr10:91171954-91172358	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91169588..91172184-chr10:91173564..91176456,2	MCF-7	breast:

Variant related genes	Relation type
IFIT5	TF binding region
ENSG00000152778	Chromatin interaction
ENSG00000107798	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs184236	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs188589	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188591	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2484046	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484047	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303171	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs303173	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303209	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303210	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303213	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303215	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs303216	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs303218	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304411	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs304412	0.88[AMR][1000 genomes]
rs304413	0.85[AMR][1000 genomes]
rs304434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304436	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304447	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs304450	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304492	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304497	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304500	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs304502	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304503	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304505	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304506	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][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	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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs304442	IFIT5	cis	Esophagus Mucosa	GTEx
rs304442	IFIT5	cis	Thyroid	GTEx
rs304442	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs304442	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs304442	IFIT5	cis	Esophagus Muscularis	GTEx
rs304442	IFIT5	cis	Nerve Tibial	GTEx
rs304442	IFIT5	cis	Artery Tibial	GTEx

Chromatin state (count:79 , 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	chr10:91153400-91172400	Weak transcription	Thymus	Thymus
5	chr10:91153600-91173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:91154200-91172400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:91154200-91173200	Weak transcription	Primary B cells from cord blood	blood
8	chr10:91154200-91173400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:91154200-91173400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:91154600-91173000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:91155200-91173200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:91155400-91172800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:91155400-91173600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:91156400-91172400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr10:91156400-91174000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr10:91161600-91173600	Weak transcription	Fetal Brain Female	brain
17	chr10:91162400-91173600	Weak transcription	HSMMtube	muscle
18	chr10:91162600-91172400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr10:91162800-91173400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:91162800-91173400	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:91162800-91173600	Weak transcription	Aorta	Aorta
22	chr10:91162800-91173800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:91163000-91173600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:91163000-91173600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:91163000-91173800	Weak transcription	Psoas Muscle	Psoas
26	chr10:91163400-91172200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr10:91163400-91172600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:91163400-91173200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:91163400-91173400	Weak transcription	Left Ventricle	heart
30	chr10:91163600-91172200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr10:91163600-91173400	Weak transcription	Hela-S3	cervix
32	chr10:91163800-91173200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:91164200-91172400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:91164200-91172600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:91164200-91173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:91164200-91173400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr10:91164200-91173600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:91164200-91173600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:91164400-91172200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:91164400-91172400	Weak transcription	Primary T cells from cord blood	blood
41	chr10:91164400-91173400	Weak transcription	Brain Anterior Caudate	brain
42	chr10:91164400-91173600	Weak transcription	Stomach Mucosa	stomach
43	chr10:91164600-91172000	Weak transcription	Fetal Lung	lung
44	chr10:91164600-91172200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:91164600-91172200	Weak transcription	Spleen	Spleen
46	chr10:91164600-91172600	Weak transcription	Brain Angular Gyrus	brain
47	chr10:91164600-91172600	Weak transcription	GM12878-XiMat	blood
48	chr10:91164600-91173200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr10:91164600-91173600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:91164600-91173600	Weak transcription	Adipose Nuclei	Adipose

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