Variant report

Variant	rs1169086
Chromosome Location	chr12:122443968-122443969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122440832..122442485-chr12:122443851..122445815,2	K562	blood:
2	chr12:122442757..122445214-chr12:122447677..122450605,3	K562	blood:
3	chr12:122439495..122442449-chr12:122442694..122444959,2	MCF-7	breast:
4	chr12:122237113..122238694-chr12:122441857..122444463,2	K562	blood:
5	chr12:122441336..122445469-chr12:122458589..122461636,5	MCF-7	breast:
6	chr12:122439280..122442623-chr12:122442639..122445815,4	K562	blood:

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000110987	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1169076	0.94[ASN][1000 genomes]
rs1169081	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1169083	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1169084	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1169087	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1169091	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1179947	0.99[ASN][1000 genomes]
rs1184893	0.88[ASN][1000 genomes]
rs12578258	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12579389	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1678970	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17852561	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1814592	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2009257	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2018749	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2272133	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2309275	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35252940	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55929316	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59972569	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7313748	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs745327	0.85[ASN][1000 genomes]
rs830115	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs830121	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122438000-122444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122439800-122445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:122440400-122445800	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:122440800-122445000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:122441000-122445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122441600-122444000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:122441600-122444200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:122441600-122444800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:122441600-122444800	Flanking Active TSS	Fetal Thymus	thymus
10	chr12:122441600-122445800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:122441800-122444200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr12:122441800-122444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:122441800-122444200	Enhancers	GM12878-XiMat	blood
14	chr12:122441800-122444400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:122441800-122444400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:122441800-122445800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:122441800-122445800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:122442000-122444400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:122442000-122444400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:122442000-122446800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:122442200-122444200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:122442200-122444200	Enhancers	Fetal Muscle Trunk	muscle
23	chr12:122442200-122445000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
25	chr12:122442800-122445600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:122443000-122444400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:122443000-122444400	Weak transcription	Fetal Brain Male	brain
28	chr12:122443000-122445000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:122443000-122445600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:122443000-122446000	Weak transcription	Adipose Nuclei	Adipose
31	chr12:122443000-122449000	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
33	chr12:122443400-122444400	Weak transcription	Fetal Heart	heart
34	chr12:122443400-122444400	Weak transcription	Left Ventricle	heart
35	chr12:122443400-122444400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:122443400-122446200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:122443400-122446600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:122443400-122446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:122443400-122446800	Weak transcription	NHEK	skin
40	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
41	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
42	chr12:122443600-122444000	Active TSS	Thymus	Thymus
43	chr12:122443600-122444000	Weak transcription	Spleen	Spleen
44	chr12:122443600-122444000	Enhancers	Dnd41	blood
45	chr12:122443600-122444400	Enhancers	Primary B cells from cord blood	blood
46	chr12:122443600-122446600	Weak transcription	HSMMtube	muscle
47	chr12:122443600-122446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:122443600-122448400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:122443800-122445000	Flanking Active TSS	Primary T cells from cord blood	blood

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