Variant report

Variant	rs12781505
Chromosome Location	chr10:91181033-91181034
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91179113..91181163-chr10:91223513..91225946,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10509572	0.84[ASN][1000 genomes]
rs10788642	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10887950	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10887953	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10887957	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10887959	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11203090	0.84[ASN][1000 genomes]
rs11203099	0.85[ASN][1000 genomes]
rs11203105	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11203106	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11203109	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11203112	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11203115	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11203119	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11819073	0.83[ASN][1000 genomes]
rs12356008	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12781453	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1591051	0.82[ASN][1000 genomes]
rs17120001	0.84[ASN][1000 genomes]
rs17120004	0.84[ASN][1000 genomes]
rs17121248	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34234196	0.84[ASN][1000 genomes]
rs35359667	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35830608	0.84[ASN][1000 genomes]
rs7088579	0.83[ASN][1000 genomes]
rs7090346	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71479013	0.84[ASN][1000 genomes]
rs884407	0.82[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12781505	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91175400-91187600	Weak transcription	HUVEC	blood vessel
2	chr10:91175600-91181200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr10:91175600-91181200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:91175600-91183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:91175600-91188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:91175600-91191800	Weak transcription	Psoas Muscle	Psoas
7	chr10:91175600-91191800	Weak transcription	Hela-S3	cervix
8	chr10:91175800-91182600	Weak transcription	Thymus	Thymus
9	chr10:91176200-91186400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:91176600-91182800	Weak transcription	Esophagus	oesophagus
11	chr10:91177000-91181400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:91177200-91181600	Strong transcription	Fetal Intestine Large	intestine
13	chr10:91177200-91181800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr10:91177400-91182000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:91177600-91184000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:91178000-91183600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:91178000-91186000	Weak transcription	HMEC	breast
18	chr10:91178000-91186200	Weak transcription	HSMMtube	muscle
19	chr10:91178000-91186400	Weak transcription	Fetal Stomach	stomach
20	chr10:91178000-91187800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:91178200-91182200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:91178200-91183800	Weak transcription	HepG2	liver
23	chr10:91178200-91184800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr10:91178200-91186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:91178200-91191800	Weak transcription	Aorta	Aorta
26	chr10:91178200-91197600	Weak transcription	Pancreas	Pancrea
27	chr10:91178400-91181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:91178400-91181600	Weak transcription	Brain Angular Gyrus	brain
29	chr10:91178400-91182000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:91178400-91182800	Weak transcription	Colon Smooth Muscle	Colon
31	chr10:91178400-91183000	Weak transcription	Fetal Thymus	thymus
32	chr10:91178400-91183800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:91178400-91184800	Weak transcription	Lung	lung
34	chr10:91178400-91185600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:91178400-91186200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:91178400-91186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:91178400-91186200	Weak transcription	NHLF	lung
38	chr10:91178400-91186200	Weak transcription	Osteobl	bone
39	chr10:91178400-91187200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:91178400-91188000	Weak transcription	Right Ventricle	heart
41	chr10:91178400-91191600	Weak transcription	A549	lung
42	chr10:91178600-91186200	Weak transcription	NH-A	brain
43	chr10:91178800-91181200	Weak transcription	Fetal Lung	lung
44	chr10:91178800-91186200	Weak transcription	NHDF-Ad	bronchial
45	chr10:91178800-91186400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:91179000-91183000	Weak transcription	Brain Germinal Matrix	brain
47	chr10:91179000-91186200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr10:91179400-91183000	Weak transcription	Brain Substantia Nigra	brain
49	chr10:91179400-91183600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr10:91179400-91184200	Weak transcription	Fetal Kidney	kidney

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