Variant report

Variant	rs59127761
Chromosome Location	chr11:120493714-120493715
allele	C/G
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	MYC	chr11:120493022-120493721	NB4	blood:	n/a	n/a
2	MAX	chr11:120493011-120493725	NB4	blood:	n/a	n/a
3	RAD21	chr11:120492924-120493817	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TCEB1P22	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11217924	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12274778	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1316812	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1317814	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1317815	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17245580	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4375451	0.86[EUR][1000 genomes]
rs4935743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4935744	0.94[EUR][1000 genomes]
rs4936528	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4936533	0.86[EUR][1000 genomes]
rs56763747	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58047799	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60787798	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61900926	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7131215	0.96[EUR][1000 genomes]
rs73002644	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73002650	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120484800-120507400	Weak transcription	Right Atrium	heart
2	chr11:120485400-120498200	Weak transcription	Ovary	ovary
3	chr11:120489600-120500200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120489800-120499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120490000-120500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:120491200-120498000	Weak transcription	Fetal Intestine Small	intestine
7	chr11:120491600-120494000	Enhancers	Fetal Lung	lung
8	chr11:120492200-120493800	Enhancers	Fetal Stomach	stomach
9	chr11:120492800-120493800	Enhancers	GM12878-XiMat	blood
10	chr11:120493000-120493800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:120493000-120493800	Enhancers	Fetal Intestine Large	intestine
12	chr11:120493000-120493800	Enhancers	Placenta	Placenta
13	chr11:120493200-120493800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:120493200-120493800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:120493200-120493800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:120493200-120494000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:120493400-120493800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:120493400-120493800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:120493400-120493800	Enhancers	HSMMtube	muscle
20	chr11:120493600-120493800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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