Variant report

Variant	rs4517729
Chromosome Location	chr15:50370390-50370391
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519258	1.00[YRI][hapmap]
rs11070744	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070746	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11635737	1.00[YRI][hapmap]
rs2414009	0.87[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4451890	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505251	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591072	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493398	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6493399	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7163415	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7176967	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183408	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036963	0.86[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50367200-50380600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr15:50367400-50381600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:50368000-50380800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:50368800-50370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:50368800-50370600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:50368800-50371000	Enhancers	Colon Smooth Muscle	Colon
7	chr15:50369000-50370600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:50369000-50371000	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:50369200-50370600	Enhancers	Brain Substantia Nigra	brain
10	chr15:50369200-50371200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:50369800-50370600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:50370000-50375000	Weak transcription	NHDF-Ad	bronchial
13	chr15:50370200-50370400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:50370200-50370600	Enhancers	Brain Anterior Caudate	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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