Variant report

Variant	rs11068291
Chromosome Location	chr12:117462951-117462952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117461681..117464080-chr12:117470751..117473024,2	MCF-7	breast:
2	chr12:117461340..117464538-chr12:117578917..117582364,3	MCF-7	breast:
3	chr12:117462662..117464720-chr12:117586991..117588878,2	MCF-7	breast:
4	chr12:117455374..117458365-chr12:117461422..117463402,2	MCF-7	breast:
5	chr12:117462045..117463688-chr12:117467328..117470013,2	MCF-7	breast:
6	chr12:117141137..117141688-chr12:117462896..117463565,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11068227	1.00[AMR][1000 genomes]
rs11068229	1.00[AMR][1000 genomes]
rs11068257	1.00[AMR][1000 genomes]
rs11068261	1.00[AMR][1000 genomes]
rs12296579	1.00[AMR][1000 genomes]
rs12297294	1.00[AMR][1000 genomes]
rs12299197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299208	1.00[AMR][1000 genomes]
rs12303371	1.00[AMR][1000 genomes]
rs12304848	1.00[AMR][1000 genomes]
rs12306116	1.00[AMR][1000 genomes]
rs12307625	1.00[AMR][1000 genomes]
rs12308160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308162	1.00[AMR][1000 genomes]
rs12309933	1.00[AMR][1000 genomes]
rs12309993	1.00[AMR][1000 genomes]
rs12310473	1.00[AMR][1000 genomes]
rs12311443	1.00[AMR][1000 genomes]
rs12313091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316781	1.00[AMR][1000 genomes]
rs12319981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322115	1.00[AMR][1000 genomes]
rs61193113	1.00[AMR][1000 genomes]
rs7300401	1.00[AMR][1000 genomes]
rs7309550	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117452400-117463400	Strong transcription	Fetal Intestine Large	intestine
5	chr12:117452400-117463800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:117452600-117463600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:117452800-117463200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:117452800-117463200	Strong transcription	A549	lung
10	chr12:117452800-117465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
13	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:117453200-117463600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:117453600-117463200	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:117453600-117470600	Weak transcription	Psoas Muscle	Psoas
17	chr12:117454000-117463200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:117454200-117463000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:117454800-117466600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:117454800-117468600	Strong transcription	Primary B cells from cord blood	blood
21	chr12:117455600-117463200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:117455600-117463600	Strong transcription	Fetal Stomach	stomach
23	chr12:117456200-117466800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:117456400-117463400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:117456600-117465400	Weak transcription	Aorta	Aorta
26	chr12:117456800-117468000	Strong transcription	Liver	Liver
27	chr12:117457200-117469200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:117457600-117463600	Strong transcription	HepG2	liver
29	chr12:117457600-117469200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:117457800-117468200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:117458000-117463400	Strong transcription	Dnd41	blood
32	chr12:117458200-117463400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:117458600-117463200	Strong transcription	Pancreas	Pancrea
34	chr12:117458600-117463400	Weak transcription	Fetal Brain Male	brain
35	chr12:117458600-117469200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:117458800-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:117459000-117463200	Weak transcription	Fetal Heart	heart
38	chr12:117459200-117463600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:117459600-117469200	Strong transcription	Osteobl	bone
40	chr12:117459800-117463600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:117460200-117463600	Strong transcription	Fetal Lung	lung
42	chr12:117460400-117463200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:117460600-117463400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:117460800-117463400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:117460800-117463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:117460800-117468000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:117461000-117463200	Strong transcription	Adipose Nuclei	Adipose
48	chr12:117461000-117465600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:117461000-117466400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:117461000-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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