Variant report

Variant	rs239041
Chromosome Location	chr21:17556261-17556262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs171190	1.00[ASN][1000 genomes]
rs239042	1.00[ASN][1000 genomes]
rs239043	1.00[ASN][1000 genomes]
rs239044	1.00[ASN][1000 genomes]
rs2823628	1.00[ASN][1000 genomes]
rs2848688	0.90[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17553200-17557800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:17553400-17557200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:17553400-17557200	Weak transcription	Brain Hippocampus Middle	brain
4	chr21:17553400-17559800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:17553400-17566400	Weak transcription	Fetal Stomach	stomach
6	chr21:17553600-17556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:17553600-17557200	Weak transcription	Brain Substantia Nigra	brain
8	chr21:17553600-17557400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:17553600-17557400	Weak transcription	Brain Angular Gyrus	brain
10	chr21:17553800-17556800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:17553800-17558000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:17555600-17556600	Enhancers	Brain Anterior Caudate	brain
13	chr21:17555600-17556600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:17555800-17557400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:17555800-17558800	Weak transcription	Right Atrium	heart
16	chr21:17556000-17557200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:17556200-17556400	Flanking Active TSS	Ovary	ovary
18	chr21:17556200-17556400	Enhancers	Hela-S3	cervix
19	chr21:17556200-17560400	Enhancers	Brain Cingulate Gyrus	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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