Variant report

Variant	rs2602482
Chromosome Location	chr11:77013928-77013929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 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	EP300	chr11:77013667-77014496	SK-N-SH	brain:	n/a	n/a
6	ARID3A	chr11:77013780-77014029	HepG2	liver:	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	HNF4A	chr11:77013801-77014002	HepG2	liver:	n/a	n/a
12	UBTF	chr11:77013912-77013943	K562	blood:	n/a	n/a
13	JUND	chr11:77013824-77014180	K562	blood:	n/a	n/a
14	FOXA1	chr11:77013727-77014058	HepG2	liver:	n/a	chr11:77013888-77013900
15	RCOR1	chr11:77013811-77014191	K562	blood:	n/a	n/a
16	GATA2	chr11:77013857-77014097	K562	blood:	n/a	n/a
17	FOXA2	chr11:77013781-77013994	HepG2	liver:	n/a	chr11:77013888-77013900
18	CCNT2	chr11:77013898-77014156	K562	blood:	n/a	n/a
19	ZMIZ1	chr11:77013853-77014177	K562	blood:	n/a	n/a
20	EP300	chr11:77013806-77014233	K562	blood:	n/a	n/a
21	NR2F2	chr11:77013799-77014134	K562	blood:	n/a	n/a
22	POLR2A	chr11:77013834-77014071	K562	blood:	n/a	n/a
23	MAFK	chr11:77013717-77014265	HepG2	liver:	n/a	n/a
24	TRIM28	chr11:77013782-77014178	K562	blood:	n/a	n/a
25	ARID3A	chr11:77013878-77014159	K562	blood:	n/a	n/a
26	PML	chr11:77013827-77014154	K562	blood:	n/a	n/a
27	GATA2	chr11:77013812-77014308	SH-SY5Y	brain:	n/a	n/a
28	TAL1	chr11:77013797-77014210	K562	blood:	n/a	n/a
29	HNF4A	chr11:77013749-77014017	HepG2	liver:	n/a	n/a
30	GATA3	chr11:77013889-77014041	SH-SY5Y	brain:	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: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10899366	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs10899367	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs11237200	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs11820118	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs11823572	0.81[ASN][1000 genomes]
rs11828786	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12420360	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2100393	0.87[ASN][1000 genomes]
rs2154754	0.89[JPT][hapmap]
rs2156863	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2602471	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2602473	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2602474	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2602475	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2602480	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2602481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602484	0.92[ASN][1000 genomes]
rs2725829	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2729756	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2729758	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2729763	0.85[ASN][1000 genomes]
rs2729772	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2729775	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs2844327	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2852388	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2852390	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2853085	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2853094	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2853095	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2853098	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs2888377	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs34375485	0.84[ASN][1000 genomes]
rs733358	0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs745458	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876319	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs896841	0.81[ASN][1000 genomes]
rs947810	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs9634030	0.95[CHB][hapmap];0.82[JPT][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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77013600-77014600	Enhancers	HepG2	liver
2	chr11:77013800-77014000	Enhancers	Liver	Liver
3	chr11:77013800-77015200	Enhancers	HUES64 Cell Line	embryonic stem cell

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