Variant report

Variant	rs7619048
Chromosome Location	chr3:99927237-99927238
allele	A/G
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:17)

rs_ID	r²[population]
rs11707768	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11719857	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11918291	0.88[ASN][1000 genomes]
rs11923373	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12486660	0.82[JPT][hapmap]
rs12490043	0.84[ASN][1000 genomes]
rs12492610	0.88[ASN][1000 genomes]
rs12494994	0.82[GIH][hapmap]
rs1565341	0.82[GIH][hapmap]
rs17335566	0.82[JPT][hapmap]
rs17335614	0.82[JPT][hapmap]
rs4928161	0.88[ASN][1000 genomes]
rs4928166	0.82[JPT][hapmap]
rs4928170	0.82[JPT][hapmap]
rs62281663	0.88[ASN][1000 genomes]
rs6440991	0.82[GIH][hapmap]
rs9827744	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 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	chr3:99917600-99928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:99917800-99933000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:99923000-99928000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:99924400-99928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:99924800-99928800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:99926800-99931000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:99927000-99928000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:99927200-99927400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:99927200-99928200	Weak transcription	H9 Derived Neuron 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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