Variant report

Variant	rs1764788
Chromosome Location	chr1:197291306-197291307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1337169	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1415214	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1615444	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1764623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1764624	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1764786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764787	0.91[EUR][1000 genomes]
rs1764791	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1764792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2786108	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2786110	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2786111	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2786112	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2786113	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2786115	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2821127	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2821131	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs482526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs550098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572447	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs580067	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658409	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664767	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197284400-197296800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:197289600-197291600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:197289800-197291400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:197290400-197291800	Enhancers	Osteobl	bone
5	chr1:197290400-197292000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:197290400-197292800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:197290600-197297800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:197290800-197296400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:197290800-197296400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:197290800-197297400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:197291000-197294200	Weak transcription	Brain Germinal Matrix	brain
12	chr1:197291000-197297800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:197291200-197291400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:197291200-197295200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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