Variant report

Variant	rs72921427
Chromosome Location	chr4:127490436-127490437
allele	C/T
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:16)

rs_ID	r²[population]
rs13149273	0.85[ASN][1000 genomes]
rs17198676	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17258452	0.87[ASN][1000 genomes]
rs2054981	0.86[EUR][1000 genomes]
rs35288473	0.89[ASN][1000 genomes]
rs35935071	0.94[ASN][1000 genomes]
rs4596256	0.96[ASN][1000 genomes]
rs6837013	0.98[ASN][1000 genomes]
rs6843113	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6845171	0.92[ASN][1000 genomes]
rs72921409	0.98[EUR][1000 genomes]
rs72921413	0.98[EUR][1000 genomes]
rs72921443	0.86[EUR][1000 genomes]
rs8180160	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs885600	0.98[ASN][1000 genomes]
rs9685782	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127474800-127493400	Weak transcription	K562	blood
2	chr4:127489600-127491400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:127489800-127490800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:127489800-127490800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:127489800-127490800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:127490000-127491400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:127490200-127490600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:127490200-127490600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr4:127490200-127491400	Enhancers	Brain Germinal Matrix	brain
10	chr4:127490400-127490600	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr4:127490400-127490800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:127490400-127490800	Enhancers	HSMMtube	muscle
13	chr4:127490400-127491400	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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