Variant report

Variant	rs304449
Chromosome Location	chr10:91176238-91176239
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	CEBPB	chr10:91176107-91176350	K562	blood:	n/a	chr10:91176213-91176224
2	CEBPB	chr10:91176065-91176291	IMR90	lung:	n/a	chr10:91176213-91176224
3	CEBPB	chr10:91176089-91176322	Hela-S3	cervix:	n/a	chr10:91176213-91176224
4	CEBPB	chr10:91176079-91176317	A549	lung:	n/a	chr10:91176213-91176224
5	CEBPB	chr10:91176074-91176359	HepG2	liver:	n/a	chr10:91176213-91176224

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91009631..91012227-chr10:91174311..91176643,2	MCF-7	breast:
2	chr10:91174610..91176445-chr10:91403039..91405498,2	MCF-7	breast:

Variant related genes	Relation type
LIPA	TF binding region
ENSG00000232936	Chromatin interaction
ENSG00000249962	Chromatin interaction
ENSG00000152782	Chromatin interaction
ENSG00000107798	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10159774	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs10509570	1.00[YRI][hapmap]
rs10749605	0.82[CEU][hapmap]
rs10749606	0.89[CEU][hapmap]
rs10749607	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs10887943	1.00[YRI][hapmap]
rs160052	1.00[YRI][hapmap]
rs1888923	1.00[YRI][hapmap]
rs215493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2458877	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484045	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs303169	0.86[CEU][hapmap]
rs303170	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303172	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303174	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs303217	0.93[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs304439	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304440	0.93[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304443	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs304448	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304451	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs304478	0.93[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs304483	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs304485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs304494	0.83[EUR][1000 genomes]
rs304495	0.93[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs304504	0.93[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs305371	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs305375	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs305377	0.89[JPT][hapmap];1.00[YRI][hapmap]
rs4934471	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4934475	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs559198	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627524	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs7094510	0.82[CEU][hapmap]
rs7095398	0.81[CEU][hapmap]
rs954439	0.81[CEU][hapmap]

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
rs304449	IFIT5	cis	Esophagus Mucosa	GTEx
rs304449	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx
rs304449	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs304449	IFIT5	cis	Artery Tibial	GTEx
rs304449	IFIT5	cis	Nerve Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91174600-91177000	Weak transcription	K562	blood
2	chr10:91175200-91176400	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr10:91175200-91176400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr10:91175400-91176600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr10:91175400-91176800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr10:91175400-91177800	Enhancers	Pancreas	Pancrea
7	chr10:91175400-91178800	Weak transcription	Gastric	stomach
8	chr10:91175400-91180200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:91175400-91187600	Weak transcription	HUVEC	blood vessel
10	chr10:91175600-91176400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr10:91175600-91176400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:91175600-91176400	Enhancers	Adipose Nuclei	Adipose
13	chr10:91175600-91176400	Enhancers	Rectal Smooth Muscle	rectum
14	chr10:91175600-91176600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:91175600-91176600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr10:91175600-91176600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:91175600-91176600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:91175600-91176600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:91175600-91176600	Enhancers	Esophagus	oesophagus
20	chr10:91175600-91176600	Enhancers	Fetal Lung	lung
21	chr10:91175600-91176800	Enhancers	Primary T cells from cord blood	blood
22	chr10:91175600-91176800	Enhancers	Left Ventricle	heart
23	chr10:91175600-91176800	Enhancers	Spleen	Spleen
24	chr10:91175600-91177000	Weak transcription	NH-A	brain
25	chr10:91175600-91177200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:91175600-91177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:91175600-91177200	Weak transcription	Aorta	Aorta
28	chr10:91175600-91177200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr10:91175600-91177200	Weak transcription	Fetal Kidney	kidney
30	chr10:91175600-91177200	Weak transcription	HMEC	breast
31	chr10:91175600-91177400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr10:91175600-91177400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:91175600-91177600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:91175600-91178000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:91175600-91179600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr10:91175600-91181200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr10:91175600-91181200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr10:91175600-91183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:91175600-91188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:91175600-91191800	Weak transcription	Psoas Muscle	Psoas
41	chr10:91175600-91191800	Weak transcription	Hela-S3	cervix
42	chr10:91175800-91176400	Enhancers	Primary B cells from cord blood	blood
43	chr10:91175800-91176400	Genic enhancers	Fetal Intestine Small	intestine
44	chr10:91175800-91176400	Enhancers	Fetal Thymus	thymus
45	chr10:91175800-91176400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr10:91175800-91176600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr10:91175800-91176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:91175800-91176600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr10:91175800-91176600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:91175800-91176600	Enhancers	Brain Hippocampus Middle	brain

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