Variant report

Variant	rs9784026
Chromosome Location	chr2:11691889-11691890
allele	G/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	POLR2A	chr2:11690062-11692930	MCF-7	breast:	n/a	n/a
2	ETS1	chr2:11691570-11692102	A549	lung:	n/a	n/a
3	GTF3C2	chr2:11691699-11692078	K562	blood:	n/a	n/a
4	KAP1	chr2:11691691-11691891	U2OS	brain:	n/a	n/a
5	BDP1	chr2:11691608-11691915	K562	blood:	n/a	n/a
6	ATF3	chr2:11691631-11692202	A549	lung:	n/a	n/a
7	TBP	chr2:11691653-11691968	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr2:11691619-11691956	GM12878	blood:	n/a	chr2:11691681-11691688
9	TBP	chr2:11691594-11692037	K562	blood:	n/a	n/a
10	ATF3	chr2:11691605-11692214	A549	lung:	n/a	n/a
11	ATF3	chr2:11691607-11692176	K562	blood:	n/a	n/a
12	RPC155	chr2:11691626-11692175	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11680556..11682708-chr2:11690760..11692726,2	K562	blood:

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000264010	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10427206	1.00[JPT][hapmap]
rs10495583	0.87[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs4487069	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs5020877	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58738000	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6710534	0.87[CEU][hapmap];0.95[EUR][1000 genomes]
rs6718650	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728463	0.82[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs6745409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68152859	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7564191	1.00[JPT][hapmap]
rs9784028	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11683400-11697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:11684800-11693800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11685400-11693800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11685600-11692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11687000-11694600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:11688600-11693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11688600-11696400	Weak transcription	Pancreas	Pancrea
9	chr2:11689000-11692600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:11689600-11692800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:11690000-11711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:11691000-11693800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:11691000-11693800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:11691000-11694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:11691000-11694800	Genic enhancers	HepG2	liver
16	chr2:11691000-11697600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:11691200-11694000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:11691400-11693800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:11691400-11696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:11691400-11697600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:11691400-11699800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:11691600-11692000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:11691600-11692200	Genic enhancers	Ovary	ovary
24	chr2:11691800-11692400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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