Variant report

Variant	rs235996
Chromosome Location	chr16:71285171-71285172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs109556	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865544	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs121308	0.89[EUR][1000 genomes]
rs171013	0.93[EUR][1000 genomes]
rs182910	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059274	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs235993	0.84[EUR][1000 genomes]
rs235997	0.81[EUR][1000 genomes]
rs235999	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236006	0.93[EUR][1000 genomes]
rs3094452	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3096371	0.89[EUR][1000 genomes]
rs3096379	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3096381	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570853	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788790	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62055863	0.90[EUR][1000 genomes]
rs918754	0.83[ASN][1000 genomes]
rs918756	0.83[ASN][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	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1860	chr16:71269156-71313852	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71279400-71289000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71279600-71288800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:71283400-71285200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr16:71283600-71288800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:71283800-71288800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr16:71283800-71289000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:71284200-71285600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:71284400-71285600	Enhancers	Placenta	Placenta
9	chr16:71284600-71285800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:71284800-71285400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:71284800-71285600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:71284800-71288600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:71285000-71285600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr16:71285000-71288600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:71285000-71289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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

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