Variant report

Variant	rs2983604
Chromosome Location	chr20:23632540-23632541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2145233	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2145234	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2180663	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424581	0.82[EUR][1000 genomes]
rs2424588	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2983603	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2983605	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208871	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs911122	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][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	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
2	esv3447058	chr20:23631152-23633850	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 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	chr20:23628200-23633400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:23628200-23633600	Weak transcription	Fetal Thymus	thymus
12	chr20:23628200-23638000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:23628600-23633000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:23631000-23633000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr20:23631400-23633000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr20:23631800-23633000	Weak transcription	HepG2	liver
17	chr20:23631800-23633200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr20:23632400-23633000	Weak transcription	HMEC	breast

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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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