Variant report

Variant	rs16965783
Chromosome Location	chr17:38588234-38588235
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38582887..38585427-chr17:38586447..38588752,2	K562	blood:
2	chr17:38580560..38584947-chr17:38585760..38591436,7	K562	blood:
3	chr17:38581797..38583690-chr17:38586933..38588887,2	MCF-7	breast:
4	chr17:38587923..38591705-chr17:38591977..38594441,3	MCF-7	breast:
5	chr17:38587973..38589674-chr17:38599835..38601387,2	MCF-7	breast:
6	chr17:38587058..38589515-chr17:38604299..38606675,2	K562	blood:
7	chr17:38587525..38592353-chr17:38597530..38601586,11	MCF-7	breast:
8	chr17:38587744..38590603-chr17:38590912..38592716,3	K562	blood:
9	chr17:38587889..38589952-chr17:38605595..38608184,2	MCF-7	breast:
10	chr17:38588081..38591030-chr17:38591069..38592804,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1009570	1.00[YRI][hapmap]
rs1530363	0.87[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2015561	1.00[YRI][hapmap]
rs2586112	0.93[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2715556	0.81[CHD][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap]
rs2715557	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs471692	0.93[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs473198	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs474510	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs477220	0.82[EUR][1000 genomes]
rs495511	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs507564	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510336	0.82[EUR][1000 genomes]
rs525217	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525812	0.87[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs528045	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552857	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs557498	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs558068	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62066565	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16965783	KRT33B	cis	parietal	SCAN
rs16965783	MYO19	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38575400-38588600	Weak transcription	Fetal Stomach	stomach
2	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:38583600-38589600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:38584000-38592600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr17:38584400-38589200	Weak transcription	Fetal Thymus	thymus
6	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:38587800-38588600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:38587800-38589400	Weak transcription	Right Ventricle	heart
9	chr17:38588000-38588400	Active TSS	Spleen	Spleen
10	chr17:38588000-38588600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:38588200-38588400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:38588200-38589000	Enhancers	Colon Smooth Muscle	Colon
13	chr17:38588200-38590600	Enhancers	K562	blood

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