Variant report

Variant	rs72936689
Chromosome Location	chr11:66026627-66026628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr11:66024333-66026925	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr11:66024228-66027156	IMR90	lung:	n/a	chr11:66024263-66024272
3	POLR2A	chr11:66024058-66027180	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr11:66024247-66026762	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:66023745-66027909	A549	lung:	n/a	n/a
6	POLR2A	chr11:66026546-66026681	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66000981..66003295-chr11:66025694..66027840,2	MCF-7	breast:
2	chr11:65837353..65839732-chr11:66024702..66027312,4	MCF-7	breast:
3	chr11:66024034..66026694-chr11:66139002..66141879,3	K562	blood:
4	chr11:65989212..65991575-chr11:66026106..66027836,2	K562	blood:
5	chr11:66025864..66027446-chr11:66054760..66056847,2	MCF-7	breast:
6	chr11:66023062..66027568-chr11:66043406..66047432,6	MCF-7	breast:
7	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
8	chr11:66001048..66005281-chr11:66024022..66027550,4	K562	blood:
9	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:

No data

Variant related genes	Relation type
KLC2	TF binding region
ENSG00000254452	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000174871	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1300706	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs496438	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55640200	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55701638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559298	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572827	0.96[EUR][1000 genomes]
rs72936614	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72936669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936687	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66025000-66028000	Enhancers	Fetal Brain Male	brain
2	chr11:66025200-66027000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:66025600-66026800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:66025800-66027000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:66026000-66026800	Flanking Active TSS	Fetal Brain Female	brain
6	chr11:66026000-66027000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:66026000-66027000	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr11:66026000-66027200	Flanking Active TSS	GM12878-XiMat	blood
9	chr11:66026200-66026800	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:66026200-66026800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:66026200-66027000	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:66026200-66027000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:66026200-66027400	Weak transcription	Aorta	Aorta
14	chr11:66026200-66027600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:66026200-66027600	Weak transcription	Ovary	ovary
16	chr11:66026200-66034200	Weak transcription	Right Atrium	heart
17	chr11:66026200-66035200	Weak transcription	Small Intestine	intestine
18	chr11:66026400-66026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:66026400-66026800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:66026400-66026800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:66026400-66026800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:66026400-66026800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:66026400-66026800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:66026400-66026800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:66026400-66026800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:66026400-66026800	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:66026400-66026800	Weak transcription	Fetal Intestine Large	intestine
28	chr11:66026400-66026800	Enhancers	Fetal Kidney	kidney
29	chr11:66026400-66026800	Weak transcription	Placenta	Placenta
30	chr11:66026400-66026800	Genic enhancers	Fetal Stomach	stomach
31	chr11:66026400-66026800	Weak transcription	Lung	lung
32	chr11:66026400-66026800	Active TSS	NHDF-Ad	bronchial
33	chr11:66026400-66027000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:66026400-66027000	Transcr. at gene 5' and 3'	Thymus	Thymus
35	chr11:66026400-66027200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:66026400-66027200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:66026400-66027200	Weak transcription	Left Ventricle	heart
38	chr11:66026400-66027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:66026400-66027600	Weak transcription	Liver	Liver
40	chr11:66026400-66027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:66026400-66027800	Weak transcription	Esophagus	oesophagus
42	chr11:66026400-66027800	Weak transcription	Spleen	Spleen
43	chr11:66026400-66028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:66026400-66028600	Weak transcription	Colonic Mucosa	Colon
45	chr11:66026400-66028600	Genic enhancers	Fetal Muscle Leg	muscle
46	chr11:66026400-66028600	Weak transcription	Gastric	stomach
47	chr11:66026400-66028600	Weak transcription	Pancreas	Pancrea
48	chr11:66026400-66028600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:66026400-66028800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:66026400-66028800	Weak transcription	Rectal Mucosa Donor 29	rectum

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