Variant report

Variant	rs16986527
Chromosome Location	chr20:40747211-40747212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56030532	0.81[AMR][1000 genomes]
rs73114435	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73117856	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40737600-40747800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:40745200-40747600	Weak transcription	Brain Anterior Caudate	brain
4	chr20:40746200-40747400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr20:40746800-40747400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:40746800-40747600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:40747000-40747400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr20:40747000-40747400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:40747000-40747600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr20:40747000-40747600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:40747000-40747600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:40747000-40748600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:40747200-40747600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr20:40747200-40747800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr20:40747200-40747800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr20:40747200-40748000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr20:40747200-40758400	Weak transcription	Ganglion Eminence 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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