Variant report

Variant	rs4140450
Chromosome Location	chr1:192845807-192845808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10801159	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921283	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775686	0.84[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap]
rs1856840	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap]
rs1890974	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr1:192841800-192850200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:192842200-192847200	Weak transcription	Right Atrium	heart
3	chr1:192842400-192847400	Weak transcription	Aorta	Aorta
4	chr1:192843600-192846000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:192843800-192861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:192844400-192846800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:192844800-192848800	Enhancers	Fetal Stomach	stomach
8	chr1:192845000-192846200	Enhancers	Fetal Heart	heart
9	chr1:192845000-192848000	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:192845600-192846000	Enhancers	Spleen	Spleen
11	chr1:192845600-192846600	Weak transcription	Primary B cells from cord blood	blood
12	chr1:192845800-192846000	Enhancers	Fetal Muscle Leg	muscle
13	chr1:192845800-192846000	Enhancers	Left Ventricle	heart
14	chr1:192845800-192846000	Enhancers	Pancreas	Pancrea
15	chr1:192845800-192846200	Enhancers	Fetal Lung	lung
16	chr1:192845800-192847800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr1:192845800-192848000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:192845800-192848400	Enhancers	Colon Smooth Muscle	Colon
19	chr1:192845800-192849600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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