Variant report

Variant	rs1943486
Chromosome Location	chr11:56960773-56960774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10501363	0.82[CEU][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap]
rs10896573	0.94[EUR][1000 genomes]
rs10896577	0.90[ASN][1000 genomes]
rs10896582	0.94[ASN][1000 genomes]
rs10896587	0.84[ASN][1000 genomes]
rs10896588	0.84[ASN][1000 genomes]
rs10896593	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11228937	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs11228941	0.94[ASN][1000 genomes]
rs11228944	0.94[ASN][1000 genomes]
rs11228955	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1124847	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12225155	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1941035	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1943479	0.92[ASN][1000 genomes]
rs1943489	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1943491	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2077189	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2903267	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3017571	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3017574	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3017575	0.82[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3758922	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939111	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs716745	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.92[ASN][1000 genomes]
rs948850	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1943486	OR8K5	cis	parietal	SCAN
rs1943486	P2RX3	cis	cerebellum	SCAN
rs1943486	OR5M9	cis	cerebellum	SCAN
rs1943486	MRPL16	cis	parietal	SCAN
rs1943486	OR4A15	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56949400-56962600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:56950200-56969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:56952600-56967000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:56955800-56962600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:56959600-56964000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:56959800-56962600	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:56959800-56968200	Weak transcription	Right Atrium	heart
8	chr11:56960000-56962000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:56960000-56962200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:56960000-56965400	Weak transcription	Fetal Brain Female	brain
11	chr11:56960000-56969600	Weak transcription	Psoas Muscle	Psoas
12	chr11:56960400-56962400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:56960400-56963600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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