Variant report

Variant	rs73357270
Chromosome Location	chr12:59999331-59999332
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59989176..59992374-chr12:59998507..60002701,5	MCF-7	breast:
2	chr12:59998248..60000809-chr12:60000863..60003196,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs60448669	1.00[AMR][1000 genomes]
rs60860880	1.00[AMR][1000 genomes]
rs74093010	1.00[AMR][1000 genomes]
rs74093013	1.00[AMR][1000 genomes]
rs74093022	1.00[AMR][1000 genomes]
rs74093028	1.00[AMR][1000 genomes]
rs74093029	1.00[AMR][1000 genomes]
rs74093037	1.00[AMR][1000 genomes]
rs74093042	1.00[AMR][1000 genomes]
rs74094870	1.00[AMR][1000 genomes]
rs74094874	1.00[AMR][1000 genomes]
rs74095210	1.00[AMR][1000 genomes]
rs74095212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59991000-60005000	Weak transcription	Lung	lung
2	chr12:59991200-60004600	Weak transcription	Ovary	ovary
3	chr12:59991400-60004600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:59991400-60004600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:59991400-60004600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:59991400-60005000	Weak transcription	Pancreas	Pancrea
7	chr12:59991400-60009400	Weak transcription	Gastric	stomach
8	chr12:59991600-60003600	Weak transcription	Fetal Thymus	thymus
9	chr12:59991600-60004400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:59991600-60004600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:59991600-60004600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:59991600-60004600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:59991600-60004800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:59991600-60005000	Weak transcription	Thymus	Thymus
15	chr12:59991600-60009400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:59991800-60004800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:59992000-60004400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:59992000-60004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:59992200-60004600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:59992400-60004600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:59992600-60013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:59993000-60002200	Weak transcription	Dnd41	blood
23	chr12:59993800-60003200	Weak transcription	Right Ventricle	heart
24	chr12:59993800-60004600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:59993800-60004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:59994000-60005000	Weak transcription	NHLF	lung
27	chr12:59994200-60004800	Weak transcription	Fetal Heart	heart
28	chr12:59994400-60004800	Weak transcription	Adipose Nuclei	Adipose
29	chr12:59994600-60004600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:59994800-60002000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:59994800-60004400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:59994800-60004400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:59994800-60005600	Weak transcription	Aorta	Aorta
34	chr12:59995600-60003200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:59995800-60004400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:59997600-59999400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:59997800-60000200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:59997800-60004400	Weak transcription	NHDF-Ad	bronchial
39	chr12:59998800-59999600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:59999000-59999400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:59999000-59999400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:59999000-59999600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:59999000-59999800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:59999000-60000600	Strong transcription	Primary B cells from cord blood	blood
45	chr12:59999200-59999600	Enhancers	Primary T cells from cord blood	blood
46	chr12:59999200-60004400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:59999200-60005000	Weak transcription	Left Ventricle	heart

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