Variant report

Variant	rs11052266
Chromosome Location	chr12:9814544-9814545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9810242..9813132-chr12:9813704..9817912,3	MCF-7	breast:
2	chr12:9798361..9803416-chr12:9813880..9817033,6	MCF-7	breast:
3	chr12:9807912..9810115-chr12:9811259..9815129,3	MCF-7	breast:
4	chr12:9799537..9802341-chr12:9814175..9817797,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLRF1-1	chr12:9812237-9814681	ENSG00000257027.1

Variant related genes	Relation type
ENSG00000257027	Chromatin interaction
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11052233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11052678	1.00[AMR][1000 genomes]
rs11834388	1.00[AMR][1000 genomes]
rs12297721	1.00[AMR][1000 genomes]
rs12303281	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317691	1.00[AMR][1000 genomes]
rs74062738	1.00[AMR][1000 genomes]
rs74062744	1.00[AMR][1000 genomes]
rs74062748	1.00[AMR][1000 genomes]
rs9630263	1.00[AMR][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	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9801600-9815600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:9802200-9815200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
4	chr12:9803000-9816400	Weak transcription	Brain Germinal Matrix	brain
5	chr12:9803000-9816800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:9803000-9819800	Weak transcription	Fetal Brain Female	brain
7	chr12:9803000-9820200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:9803000-9822200	Weak transcription	Small Intestine	intestine
9	chr12:9803600-9826200	Weak transcription	Esophagus	oesophagus
10	chr12:9804200-9814600	Weak transcription	Lung	lung
11	chr12:9804200-9815000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:9804400-9814600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:9804400-9820400	Weak transcription	HUVEC	blood vessel
14	chr12:9804600-9820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:9804600-9820000	Weak transcription	HMEC	breast
16	chr12:9804600-9820200	Weak transcription	NHEK	skin
17	chr12:9805600-9815000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:9805600-9819400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:9805800-9818200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:9806000-9814800	Strong transcription	Fetal Thymus	thymus
21	chr12:9806000-9815400	Strong transcription	Fetal Intestine Large	intestine
22	chr12:9806000-9818000	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:9806200-9815800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:9806200-9818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:9806200-9818200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:9806200-9819000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:9806200-9821600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:9806400-9815200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:9806400-9815800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:9806400-9816000	Strong transcription	Osteobl	bone
31	chr12:9806400-9817200	Strong transcription	Dnd41	blood
32	chr12:9806600-9815400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:9806600-9818000	Strong transcription	Placenta	Placenta
34	chr12:9806600-9818600	Strong transcription	Adipose Nuclei	Adipose
35	chr12:9806600-9818600	Strong transcription	Fetal Lung	lung
36	chr12:9807000-9815000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:9807000-9818000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:9807000-9818200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr12:9807000-9826000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:9808000-9817800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:9808000-9820000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:9808200-9815000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:9808200-9818200	Genic enhancers	Primary T cells from cord blood	blood
45	chr12:9808400-9818200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:9808600-9819200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:9808800-9819200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:9809000-9816800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:9809800-9815200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:9809800-9816200	Weak transcription	Brain Hippocampus Middle	brain

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