Variant report

Variant	rs6082977
Chromosome Location	chr20:22998944-22998945
allele	A/G
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1042580	0.83[CEU][hapmap]
rs10485639	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13036275	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13042418	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1331071	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1883956	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2207106	0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2207107	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2268199	0.84[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2567608	0.81[CEU][hapmap]
rs2567609	0.81[CEU][hapmap]
rs34112928	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34217171	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34854430	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34980833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35745073	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36016048	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3746726	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3746728	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6076008	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6076009	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[YRI][hapmap]
rs6076010	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6076012	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6076013	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6082974	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6082975	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6082986	0.88[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6106596	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6113905	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6113908	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6515299	0.81[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7262749	0.81[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8120756	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8125104	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs874585	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.94[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	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	chr20:22994400-22999000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr20:22995600-22999200	Enhancers	Dnd41	blood
4	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:22998000-22999600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:22998000-22999600	Weak transcription	Brain Substantia Nigra	brain
7	chr20:22998000-23000800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:22998200-22999000	Enhancers	Brain Cingulate Gyrus	brain
9	chr20:22998400-23000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:22998400-23001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:22998600-22999000	Enhancers	Brain Angular Gyrus	brain
12	chr20:22998600-22999800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:22998600-23001000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:22998800-22999600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr20:22998800-22999800	Weak transcription	Brain Hippocampus Middle	brain
16	chr20:22998800-22999800	Weak transcription	Fetal Muscle Leg	muscle
17	chr20:22998800-23000000	Weak transcription	Fetal Thymus	thymus
18	chr20:22998800-23000200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr20:22998800-23000800	Enhancers	Brain Germinal Matrix	brain
20	chr20:22998800-23001800	Weak transcription	Thymus	Thymus

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