Variant report

Variant	rs12295132
Chromosome Location	chr11:77014076-77014077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:77013757-77014165	K562	blood:	n/a	n/a
2	TBL1XR1	chr11:77013861-77014112	K562	blood:	n/a	n/a
3	TEAD4	chr11:77013707-77014247	K562	blood:	n/a	n/a
4	GATA1	chr11:77013672-77014336	K562	blood:	n/a	n/a
5	HCFC1	chr11:77013963-77014095	K562	blood:	n/a	n/a
6	EP300	chr11:77013667-77014496	SK-N-SH	brain:	n/a	n/a
7	HDAC2	chr11:77013847-77014085	K562	blood:	n/a	n/a
8	RCOR1	chr11:77013760-77014234	K562	blood:	n/a	n/a
9	GABPA	chr11:77013875-77014113	K562	blood:	n/a	n/a
10	MYC	chr11:77013830-77014120	K562	blood:	n/a	n/a
11	JUND	chr11:77013824-77014180	K562	blood:	n/a	n/a
12	RCOR1	chr11:77013811-77014191	K562	blood:	n/a	n/a
13	GATA2	chr11:77013857-77014097	K562	blood:	n/a	n/a
14	CCNT2	chr11:77013898-77014156	K562	blood:	n/a	n/a
15	ZMIZ1	chr11:77013853-77014177	K562	blood:	n/a	n/a
16	EP300	chr11:77013806-77014233	K562	blood:	n/a	n/a
17	NR2F2	chr11:77013799-77014134	K562	blood:	n/a	n/a
18	MAFK	chr11:77013717-77014265	HepG2	liver:	n/a	n/a
19	TRIM28	chr11:77013782-77014178	K562	blood:	n/a	n/a
20	ARID3A	chr11:77013878-77014159	K562	blood:	n/a	n/a
21	PML	chr11:77013827-77014154	K562	blood:	n/a	n/a
22	GATA2	chr11:77013812-77014308	SH-SY5Y	brain:	n/a	n/a
23	TAL1	chr11:77013797-77014210	K562	blood:	n/a	n/a
24	MAFK	chr11:77014024-77014324	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77013216..77015295-chr11:77050036..77051707,2	MCF-7	breast:
2	chr11:76974672..76976912-chr11:77012881..77014852,2	K562	blood:

No data

Variant related genes	Relation type
GDPD4	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10466737	1.00[CEU][hapmap]
rs11237132	1.00[CEU][hapmap]
rs11237170	1.00[CEU][hapmap]
rs12273430	1.00[CEU][hapmap]
rs12292189	1.00[CEU][hapmap]
rs12294882	1.00[CEU][hapmap]
rs12295581	1.00[CEU][hapmap]
rs12361485	1.00[CEU][hapmap]
rs12364463	1.00[CEU][hapmap]
rs12366226	1.00[CEU][hapmap]
rs4483609	1.00[CEU][hapmap]
rs7101380	1.00[CEU][hapmap]
rs7119661	1.00[CEU][hapmap]
rs7130372	1.00[CEU][hapmap]
rs7951232	1.00[CEU][hapmap]
rs7952049	1.00[CEU][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	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77013600-77014600	Enhancers	HepG2	liver
2	chr11:77013800-77015200	Enhancers	HUES64 Cell Line	embryonic stem cell

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