Variant report

Variant	rs2596620
Chromosome Location	chr3:24218341-24218342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1470661	0.86[AMR][1000 genomes]
rs2596618	0.87[AMR][1000 genomes]
rs2596621	0.87[AMR][1000 genomes]
rs2596625	0.82[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.80[JPT][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2683533	0.87[AMR][1000 genomes]
rs2683534	0.84[AMR][1000 genomes]
rs2683536	0.82[MEX][hapmap]
rs2683541	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2683545	0.82[AMR][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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834639	chr3:24037113-24233925	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv3733	chr3:24216577-24261749	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24186200-24230800	Weak transcription	Fetal Intestine Large	intestine
2	chr3:24198800-24218800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:24199400-24225800	Weak transcription	Fetal Intestine Small	intestine
4	chr3:24203600-24218600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:24207000-24222200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:24207000-24227000	Weak transcription	Left Ventricle	heart
7	chr3:24211600-24225800	Weak transcription	Psoas Muscle	Psoas
8	chr3:24213800-24218600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:24216600-24226200	Weak transcription	K562	blood
10	chr3:24217000-24223800	Weak transcription	Aorta	Aorta
11	chr3:24217800-24219400	Enhancers	NHDF-Ad	bronchial
12	chr3:24218000-24219800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:24218200-24218400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:24218200-24218800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:24218200-24219000	Weak transcription	Rectal Smooth Muscle	rectum

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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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