Variant report

Variant	rs2238179
Chromosome Location	chr14:72950881-72950882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10131497	0.88[JPT][hapmap]
rs11844202	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050430	1.00[JPT][hapmap]
rs12891926	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1544524	0.88[JPT][hapmap]
rs1548685	1.00[JPT][hapmap]
rs17780517	1.00[JPT][hapmap]
rs2190937	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238177	1.00[JPT][hapmap]
rs2238181	0.86[JPT][hapmap]
rs2239273	1.00[JPT][hapmap]
rs2239274	1.00[JPT][hapmap]
rs2239275	1.00[JPT][hapmap]
rs2239276	1.00[JPT][hapmap]
rs2283377	1.00[JPT][hapmap]
rs3819549	0.88[JPT][hapmap]
rs7159382	1.00[JPT][hapmap]
rs917426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72944000-72957600	Weak transcription	Left Ventricle	heart
2	chr14:72948400-72953600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72949200-72952000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:72949400-72962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:72950000-72953400	Weak transcription	Adipose Nuclei	Adipose
6	chr14:72950200-72953200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:72950800-72951000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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