Variant report

Variant	rs9282626
Chromosome Location	chr11:34459518-34459519
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	CUX1	chr11:34459517-34459711	GM12878	blood:	n/a	n/a
2	KAP1	chr11:34458869-34459808	K562	blood:	n/a	n/a
3	POLR2A	chr11:34459504-34461967	PBDE	blood:	n/a	n/a
4	RFX5	chr11:34459503-34462085	SK-N-SH	brain:	n/a	chr11:34460443-34460452 chr11:34460394-34460403

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34452352..34457130-chr11:34458043..34461797,6	K562	blood:

Variant related genes	Relation type
CAT	TF binding region
ENSG00000216708	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11032656	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11032672	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032702	0.97[EUR][1000 genomes]
rs1107573	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12269988	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12272630	0.97[EUR][1000 genomes]
rs12273124	0.97[EUR][1000 genomes]
rs12275712	0.81[EUR][1000 genomes]
rs12285026	0.97[EUR][1000 genomes]
rs12285064	0.97[EUR][1000 genomes]
rs12288793	0.97[EUR][1000 genomes]
rs12293745	0.95[EUR][1000 genomes]
rs12295136	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925514	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883208	0.92[EUR][1000 genomes]
rs17884086	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57360584	0.97[EUR][1000 genomes]
rs58817388	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59468184	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114869	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121907	0.97[EUR][1000 genomes]
rs7125892	0.95[EUR][1000 genomes]
rs73436768	0.97[EUR][1000 genomes]
rs7926613	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv553997	chr11:34458230-34460711	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34443800-34460000	Weak transcription	Esophagus	oesophagus
2	chr11:34449400-34459600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:34454800-34460000	Weak transcription	Lung	lung
4	chr11:34456000-34460000	Weak transcription	Pancreas	Pancrea
5	chr11:34456400-34459800	Weak transcription	HepG2	liver
6	chr11:34457800-34459600	Weak transcription	HSMMtube	muscle
7	chr11:34458600-34460200	Flanking Active TSS	Liver	Liver
8	chr11:34458800-34459800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:34458800-34460000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:34458800-34461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:34458800-34463200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:34459000-34459600	Enhancers	Primary B cells from cord blood	blood
13	chr11:34459000-34459600	Enhancers	Dnd41	blood
14	chr11:34459000-34459600	Enhancers	Hela-S3	cervix
15	chr11:34459000-34459800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:34459000-34460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:34459000-34461600	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr11:34459200-34459600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:34459200-34459600	Enhancers	Adipose Nuclei	Adipose
20	chr11:34459200-34459600	Enhancers	Brain Anterior Caudate	brain
21	chr11:34459200-34459600	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:34459200-34459600	Enhancers	Brain Germinal Matrix	brain
23	chr11:34459200-34459600	Enhancers	Fetal Lung	lung
24	chr11:34459200-34459600	Enhancers	Fetal Stomach	stomach
25	chr11:34459200-34459600	Active TSS	GM12878-XiMat	blood
26	chr11:34459200-34459600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:34459200-34459600	Enhancers	NHEK	skin
28	chr11:34459200-34459600	Enhancers	Osteobl	bone
29	chr11:34459200-34459800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:34459200-34460000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:34459200-34460000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:34459200-34460000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:34459200-34460200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:34459200-34461000	Active TSS	Muscle Satellite Cultured Cells	--
35	chr11:34459200-34461000	Active TSS	HMEC	breast
36	chr11:34459200-34461200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:34459400-34459600	Enhancers	Primary hematopoietic stem cells	blood
38	chr11:34459400-34459600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:34459400-34459600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:34459400-34459600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:34459400-34459600	Enhancers	Colon Smooth Muscle	Colon
42	chr11:34459400-34459600	Enhancers	Fetal Brain Female	brain
43	chr11:34459400-34459600	Enhancers	A549	lung
44	chr11:34459400-34459800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:34459400-34460000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:34459400-34461000	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr11:34459400-34461200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:34459400-34461200	Active TSS	NHDF-Ad	bronchial
49	chr11:34459400-34461600	Active TSS	K562	blood

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