Variant report

Variant	rs6511002
Chromosome Location	chr19:18902592-18902593
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr19:18902516-18902671	K562	blood:	n/a	n/a
2	SUZ12	chr19:18901126-18902680	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr19:18900635-18902785	NT2-D1	testis:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18895143..18898266-chr19:18900658..18903454,3	K562	blood:
2	chr19:18899550..18903298-chr19:18943373..18946094,3	K562	blood:
3	chr19:18111051..18113272-chr19:18901611..18904539,2	MCF-7	breast:
4	chr19:18895540..18898412-chr19:18899953..18903266,3	MCF-7	breast:

No data

Variant related genes	Relation type
COMP	TF binding region
ENSG00000105664	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17757406	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs1989888	0.88[EUR][1000 genomes]
rs2240014	0.81[JPT][hapmap]
rs7257846	0.81[JPT][hapmap]
rs730079	0.90[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs739638	0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv911295	chr19:18874483-18902592	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv911296	chr19:18874483-18915988	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6511002	ANKLE1	cis	parietal	SCAN
rs6511002	RAB8A	cis	parietal	SCAN
rs6511002	UNC13A	cis	parietal	SCAN
rs6511002	SLC5A5	cis	parietal	SCAN
rs6511002	MAST3	cis	parietal	SCAN
rs6511002	KLF2	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18900400-18902600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:18901400-18902600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:18901400-18903400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:18901800-18902800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:18902200-18915200	Weak transcription	Right Atrium	heart
6	chr19:18902400-18902800	Enhancers	Spleen	Spleen

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