Variant report

Variant	rs12287051
Chromosome Location	chr11:57411009-57411010
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57410596-57411165	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:57410916-57411627	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:57410881-57411246	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:57410894-57411238	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:57410853-57411488	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:57410100-57417938	PBDE	blood:	n/a	n/a
11	POLR2A	chr11:57409804-57420281	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:57410944-57411528	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57409445..57411077-chr11:57414128..57416873,2	K562	blood:
2	chr11:57334539..57338384-chr11:57406664..57411574,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254602	TF binding region
ENSG00000166793	Chromatin interaction
ENSG00000156587	Chromatin interaction
ENSG00000254602	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11229129	0.84[AFR][1000 genomes]
rs11229138	0.84[AFR][1000 genomes]
rs12269967	1.00[AFR][1000 genomes]
rs12272365	0.84[AFR][1000 genomes]
rs12277841	0.92[AFR][1000 genomes]
rs12278162	1.00[AFR][1000 genomes]
rs12286556	0.87[AFR][1000 genomes]
rs12289980	0.92[AFR][1000 genomes]
rs12292079	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 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	chr11:57403000-57412200	Weak transcription	Hela-S3	cervix
2	chr11:57407200-57412200	Weak transcription	Ovary	ovary
3	chr11:57407400-57412600	Weak transcription	GM12878-XiMat	blood
4	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:57407600-57412200	Weak transcription	Spleen	Spleen
7	chr11:57407600-57413000	Weak transcription	Right Ventricle	heart
8	chr11:57407600-57413200	Weak transcription	Esophagus	oesophagus
9	chr11:57407800-57412200	Weak transcription	Pancreas	Pancrea
10	chr11:57408000-57412000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:57408000-57412200	Weak transcription	Lung	lung
12	chr11:57408200-57411200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:57408200-57411200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:57408200-57411400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:57408200-57411400	Genic enhancers	Fetal Muscle Leg	muscle
16	chr11:57408200-57412000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:57408200-57412000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:57408400-57412200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:57408600-57411200	Weak transcription	NHEK	skin
20	chr11:57408800-57411600	Genic enhancers	H1 Cell Line	embryonic stem cell
21	chr11:57408800-57411800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:57408800-57412000	Weak transcription	Left Ventricle	heart
23	chr11:57408800-57412000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:57408800-57412000	Weak transcription	Right Atrium	heart
25	chr11:57408800-57412200	Weak transcription	Adipose Nuclei	Adipose
26	chr11:57408800-57412200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:57408800-57412200	Weak transcription	Thymus	Thymus
28	chr11:57408800-57412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:57408800-57412600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:57408800-57413400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:57409000-57411200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:57409000-57411200	Weak transcription	K562	blood
33	chr11:57409000-57411400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:57409000-57411600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:57409000-57411600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:57409000-57412000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:57409000-57412000	Weak transcription	Brain Angular Gyrus	brain
38	chr11:57409000-57412000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:57409000-57412000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:57409000-57412000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:57409000-57412200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:57409000-57412200	Weak transcription	Brain Substantia Nigra	brain
43	chr11:57409000-57412200	Weak transcription	Fetal Intestine Small	intestine
44	chr11:57409000-57412200	Weak transcription	Fetal Kidney	kidney
45	chr11:57409000-57412200	Weak transcription	A549	lung
46	chr11:57409000-57412200	Weak transcription	HSMMtube	muscle
47	chr11:57409000-57413200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:57409000-57414400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:57409000-57416200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:57409200-57411400	Strong transcription	H9 Cell Line	embryonic stem cell

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