Variant report

Variant	rs11168264
Chromosome Location	chr12:48246863-48246864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48245035..48248105-chr12:48249723..48252511,3	MCF-7	breast:
2	chr12:48246296..48248237-chr12:48373548..48375566,2	MCF-7	breast:
3	chr12:48242132..48243727-chr12:48246176..48248080,2	K562	blood:
4	chr12:48236974..48239138-chr12:48244307..48246946,2	MCF-7	breast:
5	chr12:48245078..48247874-chr12:48296202..48297981,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11168368	1.00[EUR][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11835282	1.00[EUR][1000 genomes]
rs11835720	1.00[EUR][1000 genomes]
rs11836542	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34698661	1.00[EUR][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60894356	1.00[EUR][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74085216	1.00[EUR][1000 genomes]
rs74085221	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[EUR][1000 genomes]
rs7954412	1.00[EUR][1000 genomes]
rs7967673	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48227200-48261200	Weak transcription	HSMM	muscle
2	chr12:48231400-48261400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:48232200-48253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:48232400-48263800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
6	chr12:48233000-48275200	Weak transcription	Hela-S3	cervix
7	chr12:48234600-48252400	Weak transcription	Stomach Mucosa	stomach
8	chr12:48236400-48252000	Strong transcription	Fetal Intestine Small	intestine
9	chr12:48236600-48259400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:48237000-48252200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:48237000-48253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:48237000-48259000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:48237000-48261800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr12:48237400-48252600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:48237400-48261200	Weak transcription	NH-A	brain
16	chr12:48238600-48253400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:48240000-48261200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:48240400-48247600	Weak transcription	Fetal Intestine Large	intestine
19	chr12:48240400-48250600	Weak transcription	Aorta	Aorta
20	chr12:48240600-48250600	Weak transcription	NHDF-Ad	bronchial
21	chr12:48240800-48250600	Weak transcription	Gastric	stomach
22	chr12:48241200-48263800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:48242600-48247000	Enhancers	Liver	Liver
24	chr12:48243400-48263600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:48244000-48250400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:48244000-48253400	Strong transcription	Osteobl	bone
27	chr12:48244200-48251600	Weak transcription	Primary T cells from cord blood	blood
28	chr12:48244200-48252000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:48244200-48252600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:48244400-48252000	Strong transcription	NHEK	skin
31	chr12:48244400-48252600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:48245400-48250400	Weak transcription	Spleen	Spleen
33	chr12:48245400-48252400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:48245400-48274000	Weak transcription	Small Intestine	intestine
35	chr12:48246000-48248200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:48246000-48248200	Weak transcription	Lung	lung
37	chr12:48246200-48252000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:48246200-48261200	Weak transcription	Placenta	Placenta
39	chr12:48246400-48247800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:48246400-48248200	Weak transcription	NHLF	lung
41	chr12:48246400-48250600	Weak transcription	Esophagus	oesophagus
42	chr12:48246400-48257400	Weak transcription	GM12878-XiMat	blood
43	chr12:48246400-48261600	Weak transcription	Primary B cells from cord blood	blood
44	chr12:48246400-48263800	Weak transcription	Right Atrium	heart
45	chr12:48246600-48247400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:48246600-48250400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:48246600-48250600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:48246600-48261800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:48246800-48247000	Enhancers	HepG2	liver
50	chr12:48246800-48247200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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