Variant report

Variant	rs72672576
Chromosome Location	chr4:121446261-121446262
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2390018	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67022069	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72672591	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv879853	chr4:121292665-121513215	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121442400-121446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:121444800-121446800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:121445000-121447400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:121445200-121447800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:121445200-121448200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:121445400-121448000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:121446000-121447000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:121446000-121447000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:121446000-121447600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:121446200-121446600	Weak transcription	H1 Cell Line	embryonic stem cell

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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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