Variant report

Variant	rs304412
Chromosome Location	chr10:91187633-91187634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91186724..91190191-chr10:91191424..91194193,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs184236	0.89[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs188589	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2484046	0.87[AMR][1000 genomes]
rs2484047	0.84[AMR][1000 genomes]
rs303171	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs303173	0.85[AMR][1000 genomes]
rs303208	0.81[EUR][1000 genomes]
rs303209	0.85[AMR][1000 genomes]
rs303210	0.83[CEU][hapmap];0.85[AMR][1000 genomes]
rs303213	0.84[AMR][1000 genomes]
rs303215	0.83[CEU][hapmap];0.84[AMR][1000 genomes]
rs303216	0.84[AMR][1000 genomes]
rs304410	0.87[EUR][1000 genomes]
rs304411	0.94[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs304413	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304434	0.87[AMR][1000 genomes]
rs304436	0.86[AMR][1000 genomes]
rs304437	0.83[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes]
rs304441	0.83[CEU][hapmap];0.88[AMR][1000 genomes]
rs304442	0.88[AMR][1000 genomes]
rs304447	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs304450	0.87[AMR][1000 genomes]
rs304501	0.86[CHB][hapmap]
rs304502	0.83[CEU][hapmap]
rs304505	0.83[CEU][hapmap]
rs304506	0.83[CEU][hapmap]
rs304508	0.86[CHB][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs304412	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs304412	IFIT5	cis	Artery Tibial	GTEx
rs304412	IFIT5	cis	Nerve Tibial	GTEx
rs304412	IFIT5	cis	Esophagus Muscularis	GTEx
rs304412	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs304412	IFIT5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91175600-91188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr10:91175600-91191800	Weak transcription	Psoas Muscle	Psoas
3	chr10:91175600-91191800	Weak transcription	Hela-S3	cervix
4	chr10:91178000-91187800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:91178200-91191800	Weak transcription	Aorta	Aorta
6	chr10:91178200-91197600	Weak transcription	Pancreas	Pancrea
7	chr10:91178400-91188000	Weak transcription	Right Ventricle	heart
8	chr10:91178400-91191600	Weak transcription	A549	lung
9	chr10:91179400-91187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:91179400-91187800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:91179400-91187800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:91179600-91225600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:91181200-91192800	Weak transcription	Left Ventricle	heart
14	chr10:91182200-91191200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:91182200-91191400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:91186000-91189000	Enhancers	HMEC	breast
17	chr10:91186000-91189600	Enhancers	Fetal Heart	heart
18	chr10:91186200-91187800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:91186200-91188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:91186200-91188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:91186200-91188400	Enhancers	NHLF	lung
22	chr10:91186200-91188400	Enhancers	Osteobl	bone
23	chr10:91186200-91188800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:91186200-91189000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:91186200-91189000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:91186200-91189000	Enhancers	NHEK	skin
27	chr10:91186200-91189400	Enhancers	HSMM	muscle
28	chr10:91186200-91189800	Enhancers	NHDF-Ad	bronchial
29	chr10:91186400-91187800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:91186400-91188600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:91186400-91188800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:91186400-91189000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:91186400-91189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:91186400-91189000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:91186600-91187800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:91186600-91187800	Weak transcription	Right Atrium	heart
37	chr10:91186600-91188000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr10:91186600-91188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr10:91187200-91188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:91187400-91187800	Enhancers	NH-A	brain
41	chr10:91187400-91188000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:91187400-91189200	Enhancers	HSMMtube	muscle
43	chr10:91187600-91187800	Enhancers	HUVEC	blood vessel
44	chr10:91187600-91189600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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