Variant report

Variant	rs11826923
Chromosome Location	chr11:67135577-67135578
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	chr11:67135378-67135690	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:67134663-67135843	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:67134317-67140357	U87	brain:	n/a	n/a
4	POLR2A	chr11:67135398-67135610	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:67131258-67139775	A549	lung:	n/a	n/a
6	POLR2A	chr11:67134317-67135602	U87	brain:	n/a	n/a
7	POLR2A	chr11:67135344-67136018	K562	blood:	n/a	n/a
8	TCF12	chr11:67134390-67135650	A549	lung:	n/a	chr11:67135152-67135159 chr11:67134516-67134526
9	MAX	chr11:67134393-67135778	A549	lung:	n/a	chr11:67134409-67134419 chr11:67135539-67135550
10	POLR2A	chr11:67135346-67135577	K562	blood:	n/a	n/a
11	POLR2A	chr11:67135270-67135672	HCT-116	colon:	n/a	n/a
12	POLR2A	chr11:67135078-67135611	K562	blood:	n/a	n/a
13	POLR2A	chr11:67135401-67139412	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67133399..67135942-chr11:67204970..67207093,2	K562	blood:
2	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:

Variant related genes	Relation type
CLCF1	TF binding region
ENSG00000213402	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10896171	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11227764	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11227771	1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227780	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2004225	0.86[EUR][1000 genomes]
rs2066491	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2228522	1.00[JPT][hapmap]
rs2255990	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3802745	0.86[EUR][1000 genomes]
rs57238619	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58530946	0.83[EUR][1000 genomes]
rs60229295	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61891566	0.86[EUR][1000 genomes]
rs61891569	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61891571	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61891572	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61891574	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72932705	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	esv3361899	chr11:67133576-67138574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67125000-67137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67125200-67138200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:67125200-67139200	Weak transcription	Small Intestine	intestine
4	chr11:67125600-67136600	Weak transcription	HUVEC	blood vessel
5	chr11:67131200-67137400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr11:67131200-67139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:67131400-67138800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:67131400-67138800	Enhancers	Primary B cells from cord blood	blood
9	chr11:67132000-67135600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:67132400-67137800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:67132400-67139200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:67132600-67136000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:67132600-67136000	Enhancers	Ovary	ovary
14	chr11:67132600-67136000	Enhancers	Right Atrium	heart
15	chr11:67132800-67135600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:67132800-67138000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:67132800-67139600	Weak transcription	Aorta	Aorta
18	chr11:67133000-67135600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:67133000-67136000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:67133000-67136000	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:67133000-67136200	Enhancers	Fetal Heart	heart
22	chr11:67133000-67137600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:67133200-67136200	Enhancers	Fetal Muscle Leg	muscle
24	chr11:67133200-67137000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:67133200-67139200	Enhancers	Lung	lung
26	chr11:67133400-67136000	Enhancers	Right Ventricle	heart
27	chr11:67133400-67136200	Enhancers	Left Ventricle	heart
28	chr11:67133400-67138800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:67133600-67135600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:67133600-67136200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr11:67133600-67136600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:67133600-67137400	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr11:67133600-67137600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:67133600-67137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:67133600-67138200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:67133600-67138200	Enhancers	NHDF-Ad	bronchial
37	chr11:67133800-67136400	Enhancers	Hela-S3	cervix
38	chr11:67133800-67137000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:67134000-67135600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:67134000-67136200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:67134000-67136200	Enhancers	NHEK	skin
42	chr11:67134000-67136800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:67134000-67137000	Enhancers	Placenta	Placenta
44	chr11:67134000-67137000	Enhancers	NH-A	brain
45	chr11:67134000-67137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:67134000-67137200	Enhancers	Esophagus	oesophagus
47	chr11:67134000-67139200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:67134200-67135600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:67134200-67136800	Enhancers	HMEC	breast
50	chr11:67134200-67137600	Weak transcription	Fetal Kidney	kidney

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