Variant report

Variant	rs55913556
Chromosome Location	chr12:121121936-121121937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121121278..121123096-chr12:121123406..121125757,2	MCF-7	breast:
2	chr12:121110807..121113740-chr12:121121255..121124046,3	MCF-7	breast:
3	chr12:121121435..121124259-chr12:121418231..121420548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241388	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1055070	0.89[EUR][1000 genomes]
rs11556440	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12424591	0.82[EUR][1000 genomes]
rs12425951	0.82[EUR][1000 genomes]
rs12426170	0.82[EUR][1000 genomes]
rs2948150	0.89[EUR][1000 genomes]
rs55739221	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55814383	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55993251	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56217506	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56232241	0.83[EUR][1000 genomes]
rs73222802	0.82[EUR][1000 genomes]
rs73225008	0.82[EUR][1000 genomes]
rs73225010	0.82[EUR][1000 genomes]
rs73225016	0.82[EUR][1000 genomes]
rs73225017	0.82[EUR][1000 genomes]
rs73225018	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73225033	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73225035	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73225095	0.94[AMR][1000 genomes];0.89[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121107400-121123400	Weak transcription	Right Atrium	heart
2	chr12:121116000-121123800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:121116000-121123800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:121116200-121122400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:121116600-121122000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:121116600-121122200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:121116600-121122200	Weak transcription	NHDF-Ad	bronchial
8	chr12:121116600-121122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:121116600-121123400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:121116600-121123600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:121116600-121123800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:121116600-121123800	Weak transcription	Placenta	Placenta
13	chr12:121116600-121123800	Weak transcription	Stomach Mucosa	stomach
14	chr12:121116600-121123800	Weak transcription	Osteobl	bone
15	chr12:121116800-121122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:121116800-121122200	Weak transcription	NHEK	skin
17	chr12:121116800-121123600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:121116800-121123800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:121118400-121122600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:121118400-121123400	Weak transcription	Hela-S3	cervix
21	chr12:121118400-121123800	Weak transcription	Small Intestine	intestine
22	chr12:121118600-121122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121118600-121122400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121118600-121122400	Weak transcription	Fetal Thymus	thymus
25	chr12:121118600-121123200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:121118600-121123400	Weak transcription	HUVEC	blood vessel
27	chr12:121118600-121123800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:121118600-121123800	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:121118600-121124000	Weak transcription	Spleen	Spleen
30	chr12:121118800-121122000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:121118800-121122000	Weak transcription	GM12878-XiMat	blood
32	chr12:121118800-121122000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:121118800-121122400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:121118800-121122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:121118800-121122600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:121119200-121122000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:121119400-121123800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:121119600-121123800	Weak transcription	Fetal Brain Male	brain
39	chr12:121120200-121123400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:121121600-121122200	Enhancers	Colonic Mucosa	Colon
41	chr12:121121600-121123800	Enhancers	Primary B cells from cord blood	blood
42	chr12:121121800-121123600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:121121800-121123600	Weak transcription	Rectal Mucosa Donor 31	rectum

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