Variant report

Variant	rs74078173
Chromosome Location	chr12:42529721-42529722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42529104..42531775-chr12:42537005..42539486,3	MCF-7	breast:
2	chr12:42526307..42530299-chr12:42534078..42537991,4	K562	blood:
3	chr12:42528143..42530319-chr12:42607718..42609289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151233	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1079985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17090843	1.00[AMR][1000 genomes]
rs17090865	1.00[AMR][1000 genomes]
rs17090974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17090988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1982507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55699566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56126783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56183709	1.00[AMR][1000 genomes]
rs56315321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56400220	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56404347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57096261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58480950	1.00[AMR][1000 genomes]
rs58745493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60164617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077451	1.00[AMR][1000 genomes]
rs74077472	1.00[AMR][1000 genomes]
rs74077474	1.00[AMR][1000 genomes]
rs74077475	1.00[AMR][1000 genomes]
rs74077477	1.00[AMR][1000 genomes]
rs74077485	1.00[AMR][1000 genomes]
rs74077492	1.00[AMR][1000 genomes]
rs74077499	1.00[AMR][1000 genomes]
rs74077816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078011	1.00[AMR][1000 genomes]
rs74078049	0.85[AFR][1000 genomes]
rs74078160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078179	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081065	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
3	chr12:42505800-42537000	Weak transcription	Lung	lung
4	chr12:42512000-42537400	Weak transcription	Ovary	ovary
5	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
6	chr12:42513000-42537000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:42513200-42537200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:42519000-42537000	Weak transcription	Right Atrium	heart
9	chr12:42519200-42537400	Weak transcription	Small Intestine	intestine
10	chr12:42519600-42537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:42519800-42536800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:42519800-42537000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:42522600-42537000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:42524000-42537200	Weak transcription	Aorta	Aorta
15	chr12:42524600-42537000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:42524800-42534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:42524800-42537000	Weak transcription	Fetal Kidney	kidney
18	chr12:42524800-42537000	Weak transcription	Gastric	stomach
19	chr12:42524800-42537200	Weak transcription	Left Ventricle	heart
20	chr12:42524800-42537200	Weak transcription	Psoas Muscle	Psoas
21	chr12:42525000-42531600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:42525400-42535800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:42525600-42534800	Weak transcription	HSMM	muscle
24	chr12:42525600-42536800	Weak transcription	HUVEC	blood vessel
25	chr12:42527800-42531000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:42528200-42530600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:42528400-42530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:42528400-42530400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:42528400-42530400	Enhancers	HMEC	breast
30	chr12:42528600-42529800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:42528600-42529800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:42528600-42529800	Enhancers	NHDF-Ad	bronchial
33	chr12:42528600-42530000	Enhancers	Hela-S3	cervix
34	chr12:42528800-42529800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:42528800-42529800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:42529000-42534400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:42529000-42537000	Weak transcription	Fetal Intestine Small	intestine
38	chr12:42529200-42530200	ZNF genes & repeats	A549	lung
39	chr12:42529200-42534400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:42529200-42534400	Weak transcription	NH-A	brain
41	chr12:42529600-42529800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:42529600-42530200	Enhancers	NHEK	skin
43	chr12:42529600-42532800	Weak transcription	GM12878-XiMat	blood
44	chr12:42529600-42534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:42529600-42534600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:42529600-42534600	Weak transcription	Osteobl	bone
47	chr12:42529600-42535600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:42529600-42537000	Weak transcription	NHLF	lung

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