Variant report

Variant	rs4930359
Chromosome Location	chr11:66141277-66141278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66140328-66142568	K562	blood:	n/a	n/a
2	FOS	chr11:66141055-66141326	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:66141074-66141325	MCF10A-Er-Src	breast:	n/a	n/a
4	HCFC1	chr11:66137127-66141321	Hela-S3	cervix:	n/a	n/a
5	FOS	chr11:66141038-66141326	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66024034..66026694-chr11:66139002..66141879,3	K562	blood:
2	chr11:66137544..66141665-chr11:66155643..66157959,3	MCF-7	breast:
3	chr11:66049515..66053153-chr11:66136549..66141980,4	K562	blood:
4	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
5	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

No data

Variant related genes	Relation type
SLC29A2	TF binding region
ENSG00000174744	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000254736	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000179292	Chromatin interaction
ENSG00000255468	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1039593	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10750785	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190626	1.00[TSI][hapmap]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320675	0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1344410	0.93[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	0.93[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1785624	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2292123	0.93[ASW][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3016763	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[ASW][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3867130	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs6421643	1.00[TSI][hapmap]
rs7104297	0.93[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7111197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125100	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7130857	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66140200-66141400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:66140200-66141400	Enhancers	HMEC	breast
3	chr11:66140200-66141400	Enhancers	HSMMtube	muscle
4	chr11:66140200-66141800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr11:66140400-66141400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:66140400-66141400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:66140400-66141400	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:66140400-66141400	Enhancers	Fetal Heart	heart
9	chr11:66140400-66142000	Weak transcription	Right Atrium	heart
10	chr11:66140600-66141400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:66140600-66141400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:66140600-66141400	Enhancers	K562	blood
13	chr11:66140800-66141400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:66141200-66141400	Enhancers	Fetal Kidney	kidney
15	chr11:66141200-66141400	Enhancers	Hela-S3	cervix

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