Variant report

Variant	rs73487048
Chromosome Location	chr13:48853109-48853110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48851960..48854495-chr13:48874913..48877525,3	K562	blood:
2	chr13:48796669..48798523-chr13:48852161..48854469,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1002865	1.00[EUR][1000 genomes]
rs34692420	1.00[EUR][1000 genomes]
rs56835880	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56955865	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60372626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61683759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485077	1.00[EUR][1000 genomes]
rs73485079	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487044	1.00[ASN][1000 genomes]
rs73487051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73487055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73487056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73487058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993670	1.00[EUR][1000 genomes]
rs7996717	1.00[EUR][1000 genomes]
rs7999809	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002352	1.00[EUR][1000 genomes]
rs9332285	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9332304	1.00[EUR][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
2	chr13:48841800-48853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:48844400-48857600	Weak transcription	HSMMtube	muscle
4	chr13:48844400-48877200	Weak transcription	Aorta	Aorta
5	chr13:48852000-48853400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr13:48852200-48853600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:48852800-48853400	Enhancers	HUVEC	blood vessel
8	chr13:48853000-48853200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:48853000-48853200	Enhancers	Brain Angular Gyrus	brain
10	chr13:48853000-48853200	Enhancers	Fetal Muscle Leg	muscle
11	chr13:48853000-48853200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr13:48853000-48853400	Enhancers	Brain Hippocampus Middle	brain
13	chr13:48853000-48853400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr13:48853000-48853400	Enhancers	Brain Substantia Nigra	brain
15	chr13:48853000-48853600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:48853000-48853600	Enhancers	Brain Anterior Caudate	brain
17	chr13:48853000-48853600	Enhancers	Brain Cingulate Gyrus	brain
18	chr13:48853000-48853800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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