Variant report

Variant	rs62182892
Chromosome Location	chr2:191454448-191454449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191453326..191455732-chr2:191457953..191459845,2	MCF-7	breast:
2	chr2:191447292..191449336-chr2:191452826..191454451,2	MCF-7	breast:
3	chr2:191446916..191449230-chr2:191454254..191457389,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10204628	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931455	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931459	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931460	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931464	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673788	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673921	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11675051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677333	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685221	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11686226	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005335	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159821	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159822	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109383	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34703964	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34751744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35954637	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324341	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4343493	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4384819	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4384820	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4597559	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4638823	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55784091	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55788736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884870	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55901912	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55918914	0.80[EUR][1000 genomes]
rs56094872	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56337518	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61730953	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61743479	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62181001	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62181002	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62181014	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62181015	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62181017	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62181024	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181026	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181027	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181031	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62181032	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181033	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181036	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181053	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62181057	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182860	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182861	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182862	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182863	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182864	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434404	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6707836	0.80[EUR][1000 genomes]
rs6708018	0.80[EUR][1000 genomes]
rs6714829	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6719656	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6727054	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742904	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6756354	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6757698	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72905231	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72905290	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72907168	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72911128	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7573621	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7574871	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62182892	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs62182892	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs62182892	FLJ20160	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191443800-191456600	Weak transcription	Psoas Muscle	Psoas
3	chr2:191444200-191456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:191448800-191461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:191449000-191457800	Weak transcription	Hela-S3	cervix
6	chr2:191450400-191454800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:191450400-191455000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:191450600-191454600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:191450600-191456400	Weak transcription	GM12878-XiMat	blood
11	chr2:191450600-191464400	Weak transcription	Right Atrium	heart
12	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
13	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:191450800-191454600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:191451200-191457000	Weak transcription	NHDF-Ad	bronchial
16	chr2:191452200-191458000	Weak transcription	Left Ventricle	heart
17	chr2:191452800-191457400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:191454000-191457200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:191454000-191457800	Weak transcription	K562	blood

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