Variant report

Variant	rs34217171
Chromosome Location	chr20:22999622-22999623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22997980..23000711-chr20:23001339..23003564,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10485639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13036275	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13042418	0.90[EUR][1000 genomes]
rs1331071	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1883956	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2207106	0.88[EUR][1000 genomes]
rs2207107	0.88[EUR][1000 genomes]
rs2268199	0.82[EUR][1000 genomes]
rs34112928	0.89[EUR][1000 genomes]
rs34854430	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34980833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35745073	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36016048	0.88[EUR][1000 genomes]
rs3746726	0.87[EUR][1000 genomes]
rs3746728	0.87[EUR][1000 genomes]
rs6076008	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6076010	0.82[EUR][1000 genomes]
rs6076012	0.82[EUR][1000 genomes]
rs6076013	0.88[EUR][1000 genomes]
rs6082974	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6082975	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6082977	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6082986	0.86[EUR][1000 genomes]
rs6106596	0.88[EUR][1000 genomes]
rs6113905	0.87[EUR][1000 genomes]
rs6113908	0.88[EUR][1000 genomes]
rs6515299	0.82[EUR][1000 genomes]
rs7262749	0.82[EUR][1000 genomes]
rs8120756	0.82[EUR][1000 genomes]
rs8125104	0.90[EUR][1000 genomes]
rs874585	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22991200-23002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:22998000-23000800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:22998400-23000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:22998400-23001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:22998600-22999800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr20:22998600-23001000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:22998800-22999800	Weak transcription	Brain Hippocampus Middle	brain
9	chr20:22998800-22999800	Weak transcription	Fetal Muscle Leg	muscle
10	chr20:22998800-23000000	Weak transcription	Fetal Thymus	thymus
11	chr20:22998800-23000200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr20:22998800-23000800	Enhancers	Brain Germinal Matrix	brain
13	chr20:22998800-23001800	Weak transcription	Thymus	Thymus
14	chr20:22999000-23001000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr20:22999200-22999800	Weak transcription	Dnd41	blood
16	chr20:22999400-23000400	Enhancers	Brain Angular Gyrus	brain
17	chr20:22999600-23000000	Enhancers	Fetal Muscle Trunk	muscle
18	chr20:22999600-23001000	Enhancers	Brain Cingulate Gyrus	brain
19	chr20:22999600-23001000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr20:22999600-23001000	Enhancers	Brain Substantia Nigra	brain

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