Variant report

Variant	rs72653431
Chromosome Location	chr12:2017473-2017474
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1947445..1949197-chr12:2016726..2018832,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12311729	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12312103	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16928860	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72653429	0.83[AMR][1000 genomes]
rs72653430	0.93[ASN][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	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043329	chr12:1986238-2034887	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv557000	chr12:2008548-2045640	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2016200-2017600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr12:2016600-2017600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr12:2016800-2017600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:2016800-2017600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr12:2016800-2017600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:2016800-2017600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:2016800-2017600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:2016800-2017600	ZNF genes & repeats	Lung	lung
9	chr12:2016800-2017600	Bivalent Enhancer	Ovary	ovary
10	chr12:2016800-2017600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr12:2016800-2017600	Active TSS	HepG2	liver
12	chr12:2016800-2017600	Flanking Active TSS	HMEC	breast
13	chr12:2016800-2017600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr12:2016800-2017800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr12:2016800-2017800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr12:2016800-2017800	Enhancers	Left Ventricle	heart
17	chr12:2016800-2017800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr12:2017000-2017600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:2017000-2017600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:2017000-2017600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:2017000-2017600	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr12:2017000-2017600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:2017000-2017600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:2017000-2017600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:2017000-2017600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:2017000-2017600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:2017000-2017600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr12:2017000-2017600	Active TSS	Rectal Smooth Muscle	rectum
29	chr12:2017000-2017800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:2017000-2017800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr12:2017200-2017600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr12:2017200-2017600	Active TSS	Primary T cells from cord blood	blood
33	chr12:2017200-2017600	Active TSS	Colon Smooth Muscle	Colon
34	chr12:2017200-2017600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr12:2017200-2017600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr12:2017200-2017600	Flanking Active TSS	Gastric	stomach
37	chr12:2017200-2017600	Bivalent/Poised TSS	NHEK	skin
38	chr12:2017200-2017800	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:2017200-2017800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr12:2017400-2017600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:2017400-2017600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr12:2017400-2017600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:2017400-2017600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr12:2017400-2017600	Active TSS	Colonic Mucosa	Colon
45	chr12:2017400-2017600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:2017400-2017600	Flanking Bivalent TSS/Enh	Placenta	Placenta
47	chr12:2017400-2017600	Bivalent Enhancer	Fetal Thymus	thymus
48	chr12:2017400-2017600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:2017400-2017800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:2017400-2017800	Enhancers	Pancreas	Pancrea

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