Variant report

Variant	rs28414724
Chromosome Location	chr4:62253504-62253505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10866117	0.83[ASN][1000 genomes]
rs11131325	0.83[ASN][1000 genomes]
rs1456860	0.83[ASN][1000 genomes]
rs1456861	0.83[ASN][1000 genomes]
rs2045363	0.80[ASN][1000 genomes]
rs2124793	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2342717	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4860092	0.82[ASN][1000 genomes]
rs4860411	0.82[ASN][1000 genomes]
rs6824929	0.83[ASN][1000 genomes]
rs9684550	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9999447	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	nsv879075	chr4:62124531-62354791	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv461376	chr4:62187646-62274626	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv594327	chr4:62187646-62274626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879076	chr4:62251077-62354791	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr4:62241000-62255600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:62247400-62255400	Weak transcription	Fetal Heart	heart
3	chr4:62247600-62262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:62251000-62254000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:62251200-62263000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:62251200-62266200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:62251400-62253800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:62251400-62255400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:62251600-62253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:62251800-62255400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:62252600-62253800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:62252800-62253800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:62253000-62253800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:62253200-62253800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:62253200-62255200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:62253200-62255600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:62253400-62253600	Enhancers	iPS-15b 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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