Variant report

Variant	rs303170
Chromosome Location	chr10:91182336-91182337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91172166..91175121-chr10:91181406..91183145,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152778	Chromatin interaction
ENSG00000107798	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs215493	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2458877	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2484045	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs303172	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303174	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs303217	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs304439	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs304440	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs304443	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs304448	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304449	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs304451	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304478	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs304483	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs304485	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs304494	0.82[EUR][1000 genomes]
rs304495	0.84[EUR][1000 genomes]
rs304504	0.82[EUR][1000 genomes]
rs559198	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs303170	IFIT5	cis	Artery Tibial	GTEx
rs303170	IFIT5	cis	Esophagus Mucosa	GTEx
rs303170	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs303170	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx
rs303170	IFIT5	cis	Nerve Tibial	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91175400-91187600	Weak transcription	HUVEC	blood vessel
2	chr10:91175600-91183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:91175600-91188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:91175600-91191800	Weak transcription	Psoas Muscle	Psoas
5	chr10:91175600-91191800	Weak transcription	Hela-S3	cervix
6	chr10:91175800-91182600	Weak transcription	Thymus	Thymus
7	chr10:91176200-91186400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:91176600-91182800	Weak transcription	Esophagus	oesophagus
9	chr10:91177600-91184000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:91178000-91183600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:91178000-91186000	Weak transcription	HMEC	breast
12	chr10:91178000-91186200	Weak transcription	HSMMtube	muscle
13	chr10:91178000-91186400	Weak transcription	Fetal Stomach	stomach
14	chr10:91178000-91187800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:91178200-91183800	Weak transcription	HepG2	liver
16	chr10:91178200-91184800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:91178200-91186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:91178200-91191800	Weak transcription	Aorta	Aorta
19	chr10:91178200-91197600	Weak transcription	Pancreas	Pancrea
20	chr10:91178400-91182800	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:91178400-91183000	Weak transcription	Fetal Thymus	thymus
22	chr10:91178400-91183800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:91178400-91184800	Weak transcription	Lung	lung
24	chr10:91178400-91185600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:91178400-91186200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:91178400-91186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:91178400-91186200	Weak transcription	NHLF	lung
28	chr10:91178400-91186200	Weak transcription	Osteobl	bone
29	chr10:91178400-91187200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:91178400-91188000	Weak transcription	Right Ventricle	heart
31	chr10:91178400-91191600	Weak transcription	A549	lung
32	chr10:91178600-91186200	Weak transcription	NH-A	brain
33	chr10:91178800-91186200	Weak transcription	NHDF-Ad	bronchial
34	chr10:91178800-91186400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:91179000-91183000	Weak transcription	Brain Germinal Matrix	brain
36	chr10:91179000-91186200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:91179400-91183000	Weak transcription	Brain Substantia Nigra	brain
38	chr10:91179400-91183600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:91179400-91184200	Weak transcription	Fetal Kidney	kidney
40	chr10:91179400-91186400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:91179400-91187600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:91179400-91187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr10:91179400-91187800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr10:91179400-91187800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:91179600-91182800	Weak transcription	Fetal Brain Male	brain
46	chr10:91179600-91183200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:91179600-91183600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:91179600-91183800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr10:91179600-91184600	Weak transcription	Fetal Intestine Small	intestine
50	chr10:91179600-91225600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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