Variant report

Variant	rs11621747
Chromosome Location	chr14:72869427-72869428
allele	A/G
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:10)

rs_ID	r²[population]
rs10144932	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs12434729	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434786	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239216	0.83[CHB][hapmap]
rs6574073	0.83[CHB][hapmap]
rs7149746	0.93[ASN][1000 genomes]
rs72726120	0.81[ASN][1000 genomes]
rs8015756	0.86[EUR][1000 genomes]
rs8021101	0.86[ASN][1000 genomes]
rs8021710	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72861000-72873400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72862200-72870800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72867000-72869600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:72867400-72870000	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:72867400-72870000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:72868600-72869800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:72868600-72869800	Flanking Active TSS	Dnd41	blood
8	chr14:72868600-72871000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:72868800-72872200	Weak transcription	Fetal Brain Male	brain
10	chr14:72869200-72870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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