Variant report

Variant	rs16868606
Chromosome Location	chr5:16431526-16431527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16431005..16433615-chr5:16438912..16441485,2	K562	blood:
2	chr5:16427275..16429815-chr5:16430365..16433352,2	K562	blood:
3	chr15:59223945..59226551-chr5:16431073..16432986,2	MCF-7	breast:
4	chr5:16431085..16433776-chr5:16465183..16467258,2	K562	blood:
5	chr5:16429539..16431653-chr5:16465262..16467825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173545	Chromatin interaction
ENSG00000248150	Chromatin interaction
ENSG00000249737	Chromatin interaction
ENSG00000137776	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10520841	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16868609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16868627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16868645	0.90[AFR][1000 genomes]
rs16868657	0.90[AFR][1000 genomes]
rs16868659	0.90[AFR][1000 genomes]
rs16868675	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868678	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868685	0.90[AFR][1000 genomes]
rs2896234	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3804255	1.00[ASN][1000 genomes]
rs3849099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55904417	0.92[EUR][1000 genomes]
rs56404323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57790007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61203575	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73753052	0.90[AFR][1000 genomes]
rs73753065	0.90[AFR][1000 genomes]
rs73753327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73753328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73753330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73753333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73753370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73753371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73753372	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73753374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73753375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73753380	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73753385	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4736	chr5:16393955-16439055	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16419200-16446000	Weak transcription	Pancreas	Pancrea
2	chr5:16428200-16431600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:16428400-16431600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:16428400-16433000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:16428400-16464600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:16430600-16432600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:16430800-16432000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:16430800-16432200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:16430800-16432200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:16430800-16432400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:16430800-16432600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:16430800-16432600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:16430800-16432600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:16430800-16433000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:16431000-16431800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:16431000-16433400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:16431000-16445600	Weak transcription	Left Ventricle	heart
18	chr5:16431200-16434200	Weak transcription	Fetal Heart	heart
19	chr5:16431400-16432600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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