Variant report

Variant	rs6502549
Chromosome Location	chr17:16889460-16889461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6502545	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7504096	0.89[AMR][1000 genomes];0.86[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	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv543230	chr17:16878578-16892465	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6502549	LOC96597	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16881600-16889800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr17:16884400-16890000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:16884600-16889600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:16884800-16889800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:16884800-16889800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:16884800-16889800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:16884800-16890400	Weak transcription	NHDF-Ad	bronchial
8	chr17:16885000-16890600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:16885200-16890600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:16885200-16890600	Enhancers	GM12878-XiMat	blood
11	chr17:16885600-16890000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:16885800-16890400	Weak transcription	Primary B cells from cord blood	blood
13	chr17:16885800-16891000	Weak transcription	Fetal Heart	heart
14	chr17:16887000-16889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:16888400-16891800	Enhancers	Dnd41	blood
16	chr17:16888400-16892000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:16889200-16890600	Weak transcription	Thymus	Thymus
18	chr17:16889200-16891600	Enhancers	Primary B cells from peripheral blood	blood

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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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