Variant report

Variant	rs7527604
Chromosome Location	chr1:211705342-211705343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11119762	1.00[ASN][1000 genomes]
rs11119763	0.81[ASN][1000 genomes]
rs11119764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119767	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075221	0.84[EUR][1000 genomes]
rs12403129	0.99[EUR][1000 genomes]
rs12404900	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12405191	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406039	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408588	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408812	0.91[EUR][1000 genomes]
rs1415249	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1415250	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17017695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951529	0.97[EUR][1000 genomes]
rs4951530	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4951532	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951766	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951767	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57527195	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57744575	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58699261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60879499	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61363325	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61474854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662221	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6674800	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649975	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72649976	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649977	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649978	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7524697	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7525277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211699400-211705600	Enhancers	Fetal Muscle Trunk	muscle
3	chr1:211699800-211705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:211700200-211705800	Enhancers	Fetal Muscle Leg	muscle
5	chr1:211700400-211705600	Enhancers	Adipose Nuclei	Adipose
6	chr1:211700400-211705600	Enhancers	Brain Anterior Caudate	brain
7	chr1:211701600-211711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:211701800-211712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:211702600-211711600	Weak transcription	Spleen	Spleen
10	chr1:211702800-211705400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:211703000-211705800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:211703400-211705400	Weak transcription	Psoas Muscle	Psoas
13	chr1:211703400-211705600	Enhancers	HSMMtube	muscle
14	chr1:211703400-211711600	Weak transcription	Esophagus	oesophagus
15	chr1:211703600-211707400	Weak transcription	Liver	Liver
16	chr1:211703800-211705400	Weak transcription	K562	blood
17	chr1:211703800-211708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:211704400-211705800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:211704400-211710000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:211704600-211705600	Enhancers	Fetal Brain Female	brain
21	chr1:211704600-211706000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:211704800-211705600	Enhancers	Right Ventricle	heart
23	chr1:211705000-211705600	Enhancers	Fetal Heart	heart
24	chr1:211705000-211705800	Enhancers	Left Ventricle	heart
25	chr1:211705200-211705400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:211705200-211705800	Enhancers	Fetal Brain Male	brain
27	chr1:211705200-211714600	Weak transcription	Right Atrium	heart

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