Variant report

Variant	rs2853560
Chromosome Location	chr12:48252548-48252549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48251376..48253376-chr12:48257351..48259785,2	MCF-7	breast:
2	chr12:48250736..48253195-chr12:48257010..48258764,2	K562	blood:
3	chr12:48250541..48252865-chr12:48254247..48256542,2	K562	blood:
4	chr12:48181665..48184513-chr12:48251488..48253952,2	K562	blood:
5	chr12:48098723..48101061-chr12:48251734..48253754,2	MCF-7	breast:
6	chr12:48244116..48245999-chr12:48251464..48254754,3	K562	blood:
7	chr12:48251060..48252840-chr12:48262622..48264889,2	K562	blood:
8	chr12:48211739..48215003-chr12:48250572..48254311,4	MCF-7	breast:
9	chr12:48251205..48252766-chr12:48260172..48262930,2	MCF-7	breast:
10	chr12:48243702..48245999-chr12:48251464..48253979,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2525050	1.00[AMR][1000 genomes]
rs61412033	1.00[AMR][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:57 , 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	chr12:48236600-48259400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:48237000-48253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:48237000-48259000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:48237000-48261800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr12:48237400-48252600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:48237400-48261200	Weak transcription	NH-A	brain
13	chr12:48238600-48253400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:48240000-48261200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:48241200-48263800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:48243400-48263600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:48244000-48253400	Strong transcription	Osteobl	bone
18	chr12:48244200-48252600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:48244400-48252600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:48245400-48274000	Weak transcription	Small Intestine	intestine
21	chr12:48246200-48261200	Weak transcription	Placenta	Placenta
22	chr12:48246400-48257400	Weak transcription	GM12878-XiMat	blood
23	chr12:48246400-48261600	Weak transcription	Primary B cells from cord blood	blood
24	chr12:48246400-48263800	Weak transcription	Right Atrium	heart
25	chr12:48246600-48261800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:48246800-48252800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:48246800-48258000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:48246800-48259000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:48247200-48253600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:48247800-48260600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:48248200-48259200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr12:48248200-48259200	Strong transcription	HSMMtube	muscle
33	chr12:48248200-48275800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:48249000-48253400	Enhancers	Liver	Liver
35	chr12:48249800-48257800	Weak transcription	NHLF	lung
36	chr12:48250800-48253400	Strong transcription	Colonic Mucosa	Colon
37	chr12:48250800-48259200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:48251200-48257000	Weak transcription	Fetal Intestine Large	intestine
39	chr12:48251200-48258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:48251400-48258200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:48251400-48261600	Weak transcription	Aorta	Aorta
42	chr12:48251600-48254200	Weak transcription	NHDF-Ad	bronchial
43	chr12:48251800-48254200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:48251800-48254200	Enhancers	HMEC	breast
45	chr12:48251800-48257200	Weak transcription	Spleen	Spleen
46	chr12:48252000-48253000	Genic enhancers	Fetal Intestine Small	intestine
47	chr12:48252000-48253000	Genic enhancers	NHEK	skin
48	chr12:48252000-48253400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:48252000-48254600	Enhancers	Esophagus	oesophagus
50	chr12:48252000-48258600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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