Variant report

Variant	rs2283382
Chromosome Location	chr14:72904706-72904707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2238186	0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs2238187	0.82[JPT][hapmap]
rs2238188	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3784045	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3784047	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs4140998	0.96[CEU][hapmap]
rs4903016	0.85[JPT][hapmap]
rs4903021	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4903024	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs7156512	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs758267	0.85[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72891000-72908600	Weak transcription	Left Ventricle	heart
2	chr14:72901200-72906800	Enhancers	Dnd41	blood
3	chr14:72902200-72905600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:72902400-72905800	Weak transcription	Primary T cells from cord blood	blood
5	chr14:72902600-72905200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:72904400-72905400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:72904400-72906000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72904600-72905000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:72904600-72905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:72904600-72906200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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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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