Variant report

Variant	rs1415249
Chromosome Location	chr1:211710102-211710103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211431685..211434248-chr1:211709159..211711655,2	K562	blood:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11119762	0.92[ASN][1000 genomes]
rs11119763	0.83[ASN][1000 genomes]
rs11119764	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119765	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119767	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119768	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12075221	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12403129	0.90[EUR][1000 genomes]
rs12404900	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12405191	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12406030	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12406039	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12406055	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12408556	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12408588	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12408812	0.83[EUR][1000 genomes]
rs1415250	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17017695	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17017716	1.00[YRI][hapmap]
rs4951529	0.89[EUR][1000 genomes]
rs4951530	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4951532	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4951766	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4951767	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57527195	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57744575	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58699261	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60707186	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60879499	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61363325	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61474854	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6674800	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679498	0.86[YRI][hapmap]
rs72649975	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72649976	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72649977	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72649978	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7524697	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525277	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7527002	0.97[YRI][hapmap]
rs7527604	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7527626	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211701600-211711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:211701800-211712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:211702600-211711600	Weak transcription	Spleen	Spleen
5	chr1:211703400-211711600	Weak transcription	Esophagus	oesophagus
6	chr1:211705200-211714600	Weak transcription	Right Atrium	heart
7	chr1:211705600-211711600	Weak transcription	Fetal Heart	heart
8	chr1:211705600-211714800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:211705600-211714800	Weak transcription	Right Ventricle	heart
10	chr1:211705800-211710600	Weak transcription	K562	blood
11	chr1:211708200-211714600	Weak transcription	Pancreas	Pancrea
12	chr1:211709000-211711000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:211710000-211710200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:211710000-211710200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:211710000-211712600	Enhancers	Stomach Mucosa	stomach

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