Variant report

Variant	rs4418760
Chromosome Location	chr11:47615249-47615250
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	POLR2A	chr11:47615176-47616112	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr11:47614982-47616312	H1-neurons	neurons:	n/a	n/a
3	REST	chr11:47614747-47616524	H1-neurons	neurons:	n/a	chr11:47615231-47615240
4	CTBP2	chr11:47615005-47616353	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr11:47615140-47616264	H1-hESC	embryonic stem cell:	n/a	chr11:47615682-47615693

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47613544..47615870-chr11:47616778..47619516,2	K562	blood:

Variant related genes	Relation type
C1QTNF4	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10690121	1.00[AMR][1000 genomes]
rs10769279	1.00[AMR][1000 genomes]
rs10769281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769293	1.00[MEX][hapmap]
rs10838735	1.00[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039309	1.00[AMR][1000 genomes]
rs11039312	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12286241	1.00[MKK][hapmap]
rs12289442	1.00[MEX][hapmap];1.00[MKK][hapmap]
rs2233354	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4256934	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4284367	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4303193	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331047	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4434961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4486587	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4623856	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752859	1.00[AMR][1000 genomes]
rs4752863	1.00[MEX][hapmap]
rs6416137	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485760	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485762	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485764	1.00[AMR][1000 genomes]
rs7103092	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7105845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106293	0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[AMR][1000 genomes]
rs7107473	1.00[AMR][1000 genomes]
rs7109012	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119578	0.81[AFR][1000 genomes]
rs7129821	1.00[AMR][1000 genomes]
rs7941173	0.84[AFR][1000 genomes]
rs7949024	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825873	chr11:47609306-47616463	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47607000-47632800	Weak transcription	Dnd41	blood
2	chr11:47612200-47615400	Weak transcription	Pancreas	Pancrea
3	chr11:47612200-47615600	Weak transcription	Right Atrium	heart
4	chr11:47612200-47615600	Weak transcription	Right Ventricle	heart
5	chr11:47612600-47615400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:47613000-47615600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:47613400-47615400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:47613400-47616200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr11:47614000-47615400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:47614400-47616200	Bivalent Enhancer	Fetal Thymus	thymus
11	chr11:47614600-47615400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr11:47614600-47615400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
13	chr11:47614600-47615400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr11:47614600-47616200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:47614600-47616200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:47614600-47616400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47614800-47615400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:47614800-47615400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr11:47614800-47615400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr11:47614800-47615400	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr11:47614800-47615400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr11:47614800-47615600	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr11:47614800-47615800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr11:47614800-47615800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr11:47614800-47616000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:47614800-47616200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:47614800-47616200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:47614800-47616200	Active TSS	Brain Angular Gyrus	brain
29	chr11:47615000-47615400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:47615000-47615400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:47615000-47615400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:47615000-47615400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:47615000-47615400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:47615000-47615400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:47615000-47615400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:47615000-47615400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
37	chr11:47615000-47615400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr11:47615000-47615400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr11:47615000-47615400	Active TSS	Fetal Brain Male	brain
40	chr11:47615000-47615400	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr11:47615000-47615600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:47615000-47615600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:47615000-47615600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:47615000-47615600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr11:47615000-47615600	Bivalent Enhancer	Left Ventricle	heart
46	chr11:47615000-47615800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:47615000-47615800	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr11:47615000-47615800	Enhancers	Gastric	stomach
49	chr11:47615000-47615800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr11:47615000-47616000	Bivalent Enhancer	Primary B cells from cord blood	blood

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