Variant report

Variant	rs13040066
Chromosome Location	chr20:22700599-22700600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10485634	0.86[EUR][1000 genomes]
rs10485635	0.86[EUR][1000 genomes]
rs10485636	0.86[EUR][1000 genomes]
rs1072709	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1072710	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12480993	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12481000	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12481542	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13036763	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13037107	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13037452	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13037517	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13037649	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13037670	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13037831	0.86[EUR][1000 genomes]
rs13037887	0.86[EUR][1000 genomes]
rs13037911	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs13038194	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13038520	0.94[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs13039038	0.86[EUR][1000 genomes]
rs13039191	0.86[EUR][1000 genomes]
rs13039411	0.89[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs13039474	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs13040962	0.95[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs13042154	0.86[EUR][1000 genomes]
rs13042246	0.86[EUR][1000 genomes]
rs13043823	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13044630	0.86[EUR][1000 genomes]
rs13045430	0.86[EUR][1000 genomes]
rs1983920	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983921	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983922	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983923	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983924	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2404489	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34675647	0.80[EUR][1000 genomes]
rs6036197	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs6048280	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048283	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048284	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048300	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6048302	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6106548	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62203753	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71212785	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7260708	0.86[EUR][1000 genomes]
rs7260791	0.86[EUR][1000 genomes]
rs7262725	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7263541	0.86[EUR][1000 genomes]
rs7263645	0.85[EUR][1000 genomes]
rs7264150	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7265587	0.86[EUR][1000 genomes]
rs7265809	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7265907	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7266066	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7270014	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7270196	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs7270493	0.85[EUR][1000 genomes]
rs7270606	0.86[EUR][1000 genomes]
rs7272556	0.86[EUR][1000 genomes]
rs745661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs8114980	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8117574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs8117625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs8117637	0.86[EUR][1000 genomes]
rs8117659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs8117748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs8119621	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8125753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs8126106	0.86[EUR][1000 genomes]
rs965762	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs996070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs996071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv178857	chr20:22693441-22700741	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22696000-22701000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr20:22696800-22700600	Enhancers	Primary hematopoietic stem cells	blood
3	chr20:22697000-22700600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr20:22697200-22700600	Enhancers	Stomach Mucosa	stomach
5	chr20:22697400-22700600	Enhancers	Fetal Muscle Leg	muscle
6	chr20:22697400-22700600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:22697800-22700600	Enhancers	Hela-S3	cervix
9	chr20:22698400-22704000	Weak transcription	HSMMtube	muscle
10	chr20:22698400-22705800	Weak transcription	Right Atrium	heart
11	chr20:22698800-22700600	Enhancers	HUVEC	blood vessel
12	chr20:22698800-22708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:22699200-22701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:22699600-22701600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:22699800-22703400	Weak transcription	Lung	lung
16	chr20:22699800-22703600	Weak transcription	Left Ventricle	heart
17	chr20:22700200-22703400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:22700200-22703400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:22700200-22703400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr20:22700200-22703600	Weak transcription	Spleen	Spleen
21	chr20:22700200-22705800	Weak transcription	A549	lung

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