Variant report

Variant	rs2650764
Chromosome Location	chr19:21625859-21625860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2562428	0.85[ASN][1000 genomes]
rs2562474	0.81[ASN][1000 genomes]
rs2562487	0.81[ASN][1000 genomes]
rs2650773	0.83[ASN][1000 genomes]
rs2650801	0.82[ASN][1000 genomes]
rs2650814	0.83[ASN][1000 genomes]
rs2650819	0.83[ASN][1000 genomes]
rs2914646	0.83[ASN][1000 genomes]
rs2968072	0.81[ASN][1000 genomes]
rs2968076	0.81[ASN][1000 genomes]
rs2968078	0.83[ASN][1000 genomes]
rs8101904	0.83[AMR][1000 genomes]
rs8106025	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv138313	chr19:21625797-21628433	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv138282	chr19:21625797-21634841	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2650764	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2650764	ZNF708	cis	Muscle Skeletal	GTEx
rs2650764	ZNF708	cis	lung	GTEx
rs2650764	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21607600-21630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21618200-21626800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:21622400-21632600	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:21623200-21630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:21623400-21626400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:21624200-21626400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:21624600-21636400	Weak transcription	Fetal Kidney	kidney
8	chr19:21625600-21627000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:21625600-21627000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:21625600-21627200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:21625600-21627200	Weak transcription	Dnd41	blood
12	chr19:21625600-21631400	Weak transcription	Ovary	ovary
13	chr19:21625800-21626200	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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