Variant report

Variant	rs1169075
Chromosome Location	chr12:122429654-122429655
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122429414..122431335-chr12:122431461..122433062,2	MCF-7	breast:
2	chr12:122427530..122430747-chr12:122431781..122435522,3	MCF-7	breast:
3	chr12:122428522..122431508-chr12:122460147..122462626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1154513	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1169077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1169080	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1169082	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1169085	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169092	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1169093	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1182927	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1185260	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1667580	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1667583	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1667584	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1678951	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1678967	0.87[ASN][1000 genomes]
rs1678969	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1720041	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1720067	0.87[ASN][1000 genomes]
rs1916333	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2247139	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2620353	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs493519	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6486794	0.90[AMR][1000 genomes]
rs693277	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7957207	0.92[AMR][1000 genomes]
rs7961103	0.90[AMR][1000 genomes]
rs830116	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs830122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs830123	0.91[AMR][1000 genomes]
rs830126	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs853758	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs895958	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9739533	0.86[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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
5	chr12:122418800-122437600	Weak transcription	Spleen	Spleen
6	chr12:122419800-122429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122422200-122429800	Weak transcription	Thymus	Thymus
8	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
9	chr12:122427600-122429800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:122427800-122430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:122428200-122430200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:122428200-122430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:122428200-122430800	Enhancers	NHDF-Ad	bronchial
14	chr12:122428200-122431000	Enhancers	Fetal Thymus	thymus
15	chr12:122428200-122431000	Enhancers	HMEC	breast
16	chr12:122428400-122429800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:122428400-122430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:122428400-122430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:122428400-122430800	Enhancers	NHEK	skin
20	chr12:122428400-122431000	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:122428600-122430200	Flanking Active TSS	GM12878-XiMat	blood
22	chr12:122428600-122430800	Enhancers	NHLF	lung
23	chr12:122428800-122429800	Enhancers	HSMM	muscle
24	chr12:122428800-122430000	Enhancers	HSMMtube	muscle
25	chr12:122428800-122430000	Enhancers	Osteobl	bone
26	chr12:122428800-122431000	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:122429200-122430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:122429200-122430000	Enhancers	A549	lung
29	chr12:122429200-122430000	Bivalent Enhancer	HepG2	liver
30	chr12:122429200-122430800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:122429200-122431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:122429200-122431000	Enhancers	NH-A	brain
33	chr12:122429400-122433800	Weak transcription	Fetal Lung	lung
34	chr12:122429600-122429800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:122429600-122429800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:122429600-122430200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:122429600-122430800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:122429600-122431000	Enhancers	Primary B cells from cord blood	blood

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