Variant report

Variant	rs2145233
Chromosome Location	chr20:23630079-23630080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2104006	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2145234	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180663	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424574	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2424576	0.82[EUR][1000 genomes]
rs2424577	0.83[EUR][1000 genomes]
rs2424581	0.89[EUR][1000 genomes]
rs2424588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2983603	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983604	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2983605	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62208871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911122	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23622200-23636600	Weak transcription	Pancreas	Pancrea
2	chr20:23622800-23640000	Weak transcription	Stomach Mucosa	stomach
3	chr20:23623000-23634200	Weak transcription	Right Atrium	heart
4	chr20:23623200-23636200	Weak transcription	Lung	lung
5	chr20:23624200-23633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr20:23624600-23633000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr20:23627600-23633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:23627600-23633000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:23627600-23633400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr20:23628200-23630200	Weak transcription	HepG2	liver
11	chr20:23628200-23633400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:23628200-23633600	Weak transcription	Fetal Thymus	thymus
13	chr20:23628200-23638000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:23628600-23633000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:23628800-23630600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr20:23630000-23631400	Enhancers	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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