Variant report

Variant	rs344231
Chromosome Location	chr8:62928110-62928111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10111776	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1400499	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1516996	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1516998	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1516999	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1607124	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1607126	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168252	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180751	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850369	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1966106	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs237413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377818	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28379606	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28400370	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28558888	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344200	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344204	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs344207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344210	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344232	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344233	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344234	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344241	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344242	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344248	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344251	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344252	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344254	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344272	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344281	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344307	0.93[EUR][1000 genomes]
rs344310	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35594910	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58587861	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59496972	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60173182	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60415651	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255189	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73263080	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7817852	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821502	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833161	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890951	chr8:62889169-62989464	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv890952	chr8:62898648-62989464	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890953	chr8:62899559-62989464	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv890954	chr8:62919691-63023132	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890955	chr8:62919691-63062581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:62925400-62928600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:62926000-62928200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:62926200-62928200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:62926200-62928200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:62927600-62928400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:62927800-62928200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:62927800-62928400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:62927800-62928400	Enhancers	Adipose Nuclei	Adipose
9	chr8:62927800-62928600	Enhancers	Colon Smooth Muscle	Colon
10	chr8:62928000-62928200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:62928000-62928200	Enhancers	HSMMtube	muscle
12	chr8:62928000-62928400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:62928000-62928800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:62928000-62928800	Enhancers	Gastric	stomach

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