Variant report

Variant	rs226665
Chromosome Location	chr20:24764183-24764184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1000043	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076269	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6076270	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6076272	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6138357	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6138362	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061281	chr20:24711635-24815107	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv544217	chr20:24711635-24815107	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv912825	chr20:24715544-24813345	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1061455	chr20:24733120-24861801	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv544218	chr20:24733120-24861801	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1059270	chr20:24741923-24787243	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs226665	C20orf191	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24757800-24766600	Enhancers	Fetal Thymus	thymus
2	chr20:24758400-24766800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr20:24758800-24767400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr20:24759800-24767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:24761400-24765200	Weak transcription	Primary T cells from cord blood	blood
6	chr20:24762200-24767000	Enhancers	Dnd41	blood
7	chr20:24762400-24765400	Weak transcription	GM12878-XiMat	blood
8	chr20:24762800-24766400	Enhancers	Thymus	Thymus
9	chr20:24762800-24766600	Enhancers	Primary hematopoietic stem cells	blood
10	chr20:24763400-24765800	Weak transcription	Brain Substantia Nigra	brain
11	chr20:24763400-24767000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:24763600-24764400	Enhancers	Fetal Muscle Trunk	muscle
13	chr20:24763800-24764400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:24763800-24765200	Weak transcription	Fetal Muscle Leg	muscle
15	chr20:24763800-24765600	Weak transcription	Fetal Kidney	kidney
16	chr20:24764000-24765600	Weak transcription	Fetal Stomach	stomach
17	chr20:24764000-24765600	Weak transcription	NH-A	brain
18	chr20:24764000-24765800	Weak transcription	Fetal Lung	lung
19	chr20:24764000-24770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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