Variant report

Variant	rs13192511
Chromosome Location	chr6:117778381-117778382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:117778321-117778400	LNCaP	prostate:	n/a	n/a
2	GATA3	chr6:117777894-117778682	MCF-7	breast:	n/a	n/a
3	MAFK	chr6:117778209-117778431	HepG2	liver:	n/a	chr6:117778300-117778309
4	GATA3	chr6:117777963-117778640	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:117778227..117782608-chr6:117922454..117926248,4	MCF-7	breast:
2	chr6:117774730..117776749-chr6:117778089..117780267,2	K562	blood:
3	chr6:117776496..117778476-chr6:117802016..117804969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226181	TF binding region
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs13192067	0.80[ASN][1000 genomes]
rs13192130	0.80[ASN][1000 genomes]
rs13193572	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs13195478	0.88[JPT][hapmap]
rs13195673	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs13196791	0.80[ASN][1000 genomes]
rs13198016	0.80[ASN][1000 genomes]
rs13202267	0.80[ASN][1000 genomes]
rs13202333	0.81[ASN][1000 genomes]
rs13202514	0.87[ASN][1000 genomes]
rs13205723	0.80[ASN][1000 genomes]
rs13205753	0.81[ASN][1000 genomes]
rs13205986	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs13206063	0.82[ASN][1000 genomes]
rs13207962	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs13208369	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13210963	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs13211956	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs13212002	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13217856	0.80[ASN][1000 genomes]
rs13218378	0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1407181	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407182	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17079188	0.91[ASN][1000 genomes]
rs17079281	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1853146	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1853147	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1885064	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2104064	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2273601	0.94[JPT][hapmap]
rs34059490	0.82[ASN][1000 genomes]
rs34331459	0.80[ASN][1000 genomes]
rs35002781	0.80[ASN][1000 genomes]
rs35599105	0.80[ASN][1000 genomes]
rs36045731	0.82[ASN][1000 genomes]
rs3777980	0.94[JPT][hapmap]
rs3777982	0.94[JPT][hapmap]
rs4357172	0.80[ASN][1000 genomes]
rs4632931	0.80[ASN][1000 genomes]
rs4946254	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs62433102	0.80[ASN][1000 genomes]
rs6568977	0.80[ASN][1000 genomes]
rs6568978	0.80[ASN][1000 genomes]
rs6568979	0.80[ASN][1000 genomes]
rs6910338	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914910	0.80[ASN][1000 genomes]
rs6930292	0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6936540	0.92[ASN][1000 genomes]
rs6940327	0.85[ASN][1000 genomes]
rs6941337	0.84[EUR][1000 genomes]
rs6941824	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942067	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717969	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717970	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722359	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7739294	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745840	0.80[ASN][1000 genomes]
rs7746536	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7749229	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756187	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7763979	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7764024	0.80[ASN][1000 genomes]
rs9481719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489152	0.85[JPT][hapmap]
rs9489173	0.91[ASN][1000 genomes]
rs9489193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9489199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13192511	DCBLD1	cis	Whole Blood	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117769600-117779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:117773000-117778400	Weak transcription	Stomach Mucosa	stomach
3	chr6:117777000-117778800	Enhancers	Fetal Intestine Large	intestine
4	chr6:117777600-117778800	Enhancers	Duodenum Mucosa	Duodenum
5	chr6:117777600-117778800	Enhancers	HepG2	liver
6	chr6:117778000-117778400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr6:117778000-117778400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:117778000-117778800	Enhancers	Fetal Intestine Small	intestine

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