Variant report

Variant	rs2048961
Chromosome Location	chr4:18861390-18861391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1079812	0.83[ASN][1000 genomes]
rs11737348	0.82[EUR][1000 genomes]
rs11932071	0.81[EUR][1000 genomes]
rs1400939	0.82[EUR][1000 genomes]
rs1517989	0.82[EUR][1000 genomes]
rs1517995	0.87[EUR][1000 genomes]
rs1517996	0.87[EUR][1000 genomes]
rs16897766	0.86[EUR][1000 genomes]
rs1914604	0.82[EUR][1000 genomes]
rs1914606	0.82[EUR][1000 genomes]
rs2048962	0.87[EUR][1000 genomes]
rs2222192	0.80[EUR][1000 genomes]
rs4697168	0.87[EUR][1000 genomes]
rs6449426	0.87[EUR][1000 genomes]
rs6449427	0.86[EUR][1000 genomes]
rs6814138	0.82[EUR][1000 genomes]
rs6845621	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7356391	0.85[EUR][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	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv878723	chr4:18668957-19005988	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1000054	chr4:18839588-19271261	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537051	chr4:18839588-19271261	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18849200-18870800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:18859800-18862600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:18860000-18861400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr4:18860000-18862000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr4:18860200-18861400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:18860200-18862200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:18860800-18861800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:18861000-18861400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr4:18861000-18861400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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