Variant report

Variant	rs1998082
Chromosome Location	chr20:23057678-23057679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1040585	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16984890	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1998081	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144940	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424508	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424512	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs2424513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424514	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424515	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2567617	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2749812	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.93[ASN][1000 genomes]
rs7492	0.93[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
3	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
4	chr20:23047200-23057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr20:23047800-23059000	Weak transcription	Right Atrium	heart
6	chr20:23050800-23061200	Weak transcription	Esophagus	oesophagus
7	chr20:23051800-23058400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr20:23053400-23061200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr20:23054000-23063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr20:23054200-23057800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:23054200-23057800	Weak transcription	Left Ventricle	heart
12	chr20:23055400-23058600	Weak transcription	HUVEC	blood vessel
13	chr20:23055600-23059000	Weak transcription	Lung	lung
14	chr20:23055600-23061200	Weak transcription	Primary T cells from cord blood	blood
15	chr20:23055600-23061200	Weak transcription	Spleen	Spleen
16	chr20:23056000-23059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr20:23057000-23058400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr20:23057600-23057800	Enhancers	K562	blood
19	chr20:23057600-23058200	Bivalent Enhancer	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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