Variant report

Variant	rs4466842
Chromosome Location	chr11:66183020-66183021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66176168..66179567-chr11:66180663..66184419,5	K562	blood:
2	chr11:66181218..66183138-chr11:66186069..66188598,2	MCF-7	breast:
3	chr11:66180100..66183282-chr11:66184257..66186703,5	K562	blood:
4	chr11:66182999..66185054-chr11:66303368..66305877,2	K562	blood:

Variant related genes	Relation type
ENSG00000269990	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000174576	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10750784	0.88[CEU][hapmap]
rs10896111	0.88[CEU][hapmap]
rs10896112	0.88[CEU][hapmap]
rs11823140	0.83[CEU][hapmap]
rs12785321	0.82[EUR][1000 genomes]
rs12785651	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12786563	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1546358	0.81[AMR][1000 genomes]
rs1784029	0.81[CEU][hapmap]
rs1785633	0.88[CEU][hapmap]
rs1785639	0.84[CEU][hapmap]
rs1892940	0.88[CEU][hapmap]
rs2236679	0.88[CEU][hapmap]
rs2279861	0.88[CEU][hapmap]
rs2279862	0.88[CEU][hapmap]
rs2282530	0.92[CEU][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2282531	0.88[CEU][hapmap]
rs4244813	0.88[CEU][hapmap]
rs4930178	0.88[CEU][hapmap]
rs4930363	0.82[AMR][1000 genomes]
rs4930366	0.83[EUR][1000 genomes]
rs4930368	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6591213	0.88[CEU][hapmap]
rs6591215	0.80[AMR][1000 genomes]
rs6591217	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7104570	0.88[CEU][hapmap]
rs905770	0.88[CEU][hapmap]
rs947978	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4466842	ACTN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66177000-66183600	Weak transcription	Right Atrium	heart
2	chr11:66177400-66185000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:66177600-66184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:66179200-66185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:66179400-66185000	Weak transcription	Aorta	Aorta
6	chr11:66179400-66185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66180000-66183600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:66180000-66185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:66180200-66183800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:66180400-66185200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:66180600-66183400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:66182000-66183600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:66182000-66183800	Genic enhancers	Stomach Smooth Muscle	stomach
14	chr11:66182000-66185400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:66182000-66185400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:66182000-66185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:66182000-66185400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:66182000-66186000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:66182200-66183200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:66182200-66184800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:66182200-66185200	Weak transcription	Fetal Stomach	stomach
22	chr11:66182400-66184400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:66182400-66185000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:66182600-66183600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:66182800-66185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:66182800-66185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:66182800-66185400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:66182800-66185400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:66183000-66184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:66183000-66184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:66183000-66185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:66183000-66185200	Enhancers	Fetal Heart	heart
33	chr11:66183000-66185400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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