Variant report

Variant	rs4683810
Chromosome Location	chr3:139903868-139903869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11706003	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11713717	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12629075	0.83[CEU][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4305391	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4336075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4361242	0.86[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs6767999	0.84[ASN][1000 genomes]
rs7612325	0.86[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs9810392	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9811727	0.84[ASN][1000 genomes]
rs9815878	0.84[ASN][1000 genomes]
rs9818249	0.81[ASN][1000 genomes]
rs9818563	0.84[ASN][1000 genomes]
rs9818712	0.86[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs9822648	0.82[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs9823347	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9825100	0.86[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs9856654	0.83[CEU][hapmap];0.88[JPT][hapmap]
rs9876646	0.84[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	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139899200-139904600	Weak transcription	HSMMtube	muscle
2	chr3:139900000-139904400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:139900000-139904600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:139900000-139904600	Weak transcription	Adipose Nuclei	Adipose
5	chr3:139900000-139904600	Weak transcription	NHDF-Ad	bronchial
6	chr3:139900000-139904800	Weak transcription	NHEK	skin
7	chr3:139900000-139905800	Weak transcription	Esophagus	oesophagus
8	chr3:139900200-139904800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:139901400-139904400	Weak transcription	Right Atrium	heart
10	chr3:139901600-139915000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:139901800-139904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:139902800-139904600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:139902800-139904800	Enhancers	Psoas Muscle	Psoas
14	chr3:139902800-139905400	Enhancers	Ovary	ovary
15	chr3:139902800-139907400	Enhancers	Fetal Muscle Leg	muscle
16	chr3:139903000-139905800	Weak transcription	Aorta	Aorta
17	chr3:139903400-139904400	Weak transcription	Fetal Stomach	stomach
18	chr3:139903400-139907600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:139903600-139908000	Enhancers	Fetal Heart	heart

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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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