Variant report

Variant	rs4752836
Chromosome Location	chr11:47465095-47465096
allele	C/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	CTCF	chr11:47464482-47465101	MCF-7	breast:	n/a	n/a
2	MAX	chr11:47464943-47465234	K562	blood:	n/a	n/a
3	ELF1	chr11:47464482-47465196	MCF-7	breast:	n/a	chr11:47464776-47464785 chr11:47464773-47464786 chr11:47464775-47464786
4	CTCF	chr11:47464358-47465103	A549	lung:	n/a	chr11:47464450-47464458

No.	Distal block	Cell Line	Cell type
1	chr11:47464955..47466544-chr11:47469002..47472026,3	K562	blood:
2	chr11:47448979..47451743-chr11:47463608..47465807,2	K562	blood:
3	chr11:47290657..47292737-chr11:47464964..47467930,2	MCF-7	breast:
4	chr11:47461517..47466481-chr11:47469061..47471319,5	K562	blood:
5	chr11:47445759..47448729-chr11:47464943..47467214,2	K562	blood:
6	chr11:47458007..47459868-chr11:47463393..47467045,3	K562	blood:
7	chr11:47428900..47431160-chr11:47463580..47465608,3	K562	blood:

Variant related genes	Relation type
RAPSN	TF binding region
RNU6-1302P	TF binding region
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000165916	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1044269	0.81[ASN][1000 genomes]
rs10742805	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10742806	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769267	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11820650	0.82[ASN][1000 genomes]
rs11820680	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11821917	0.81[ASN][1000 genomes]
rs11824864	0.81[ASN][1000 genomes]
rs11828339	0.81[ASN][1000 genomes]
rs12282783	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12419342	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198158	0.84[ASN][1000 genomes]
rs17790804	0.85[ASN][1000 genomes]
rs2242511	0.82[ASN][1000 genomes]
rs3740684	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740685	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781628	0.81[ASN][1000 genomes]
rs3824867	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847503	0.86[ASN][1000 genomes]
rs4237544	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4282946	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4752829	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752992	0.81[ASN][1000 genomes]
rs60380053	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60882887	0.83[ASN][1000 genomes]
rs61000762	0.83[ASN][1000 genomes]
rs7101772	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104366	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7105122	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105907	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7107853	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7108143	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111873	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7117277	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7119556	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7125468	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7126210	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130693	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753812	0.83[ASN][1000 genomes]
rs7948705	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9734013	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9919526	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47453400-47469200	Weak transcription	Psoas Muscle	Psoas
3	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
4	chr11:47456600-47468600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:47457400-47488400	Weak transcription	Gastric	stomach
8	chr11:47457800-47469000	Weak transcription	Spleen	Spleen
9	chr11:47459800-47466400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:47459800-47469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:47459800-47470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:47459800-47480600	Weak transcription	Fetal Intestine Small	intestine
13	chr11:47459800-47480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:47460000-47470800	Weak transcription	Lung	lung
15	chr11:47460000-47475600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:47460600-47465600	Weak transcription	Liver	Liver
17	chr11:47460600-47469200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:47461800-47480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:47463000-47465200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:47463600-47465400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:47463600-47469200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:47463600-47469200	Weak transcription	Placenta	Placenta
23	chr11:47463600-47469400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:47464000-47465200	Enhancers	Brain Anterior Caudate	brain
25	chr11:47464000-47465400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:47464000-47481000	Weak transcription	NHEK	skin
27	chr11:47464200-47466000	Enhancers	Fetal Thymus	thymus
28	chr11:47464400-47465200	Enhancers	Brain Angular Gyrus	brain
29	chr11:47464400-47465200	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:47464400-47465200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:47464400-47465400	Genic enhancers	Fetal Muscle Leg	muscle
32	chr11:47464400-47465400	Enhancers	Left Ventricle	heart
33	chr11:47464600-47465800	Enhancers	Primary T cells from cord blood	blood
34	chr11:47464600-47466200	Enhancers	HepG2	liver
35	chr11:47464800-47465200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr11:47464800-47465200	Genic enhancers	HSMM	muscle
37	chr11:47464800-47465400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr11:47464800-47468600	Weak transcription	HSMMtube	muscle
39	chr11:47465000-47465200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:47465000-47465400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:47465000-47480800	Weak transcription	Adipose Nuclei	Adipose

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