Variant report

Variant	rs28530722
Chromosome Location	chr12:122590338-122590339
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122583778..122586535-chr12:122588771..122590878,2	MCF-7	breast:
2	chr12:122513747..122517673-chr12:122588756..122592941,4	K562	blood:
3	chr12:122516801..122519541-chr12:122589557..122592408,2	MCF-7	breast:
4	chr12:122583443..122586737-chr12:122588161..122591789,5	K562	blood:

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28376745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57376797	0.80[AFR][1000 genomes]
rs58111134	0.85[AFR][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	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122583400-122591600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:122583600-122591400	Weak transcription	NH-A	brain
4	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
5	chr12:122584000-122591800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:122584200-122590600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:122584200-122590600	Weak transcription	Ovary	ovary
8	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122584400-122590600	Weak transcription	Placenta	Placenta
10	chr12:122584400-122590600	Weak transcription	Gastric	stomach
11	chr12:122584400-122591400	Weak transcription	HSMMtube	muscle
12	chr12:122584400-122591400	Weak transcription	NHLF	lung
13	chr12:122584600-122592400	Weak transcription	Hela-S3	cervix
14	chr12:122584800-122590400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:122584800-122590800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:122584800-122590800	Weak transcription	Esophagus	oesophagus
17	chr12:122584800-122590800	Weak transcription	NHEK	skin
18	chr12:122584800-122591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:122584800-122591400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:122584800-122601200	Weak transcription	Dnd41	blood
21	chr12:122585000-122595800	Weak transcription	Fetal Kidney	kidney
22	chr12:122585400-122590400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:122585400-122591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:122585400-122592600	Weak transcription	GM12878-XiMat	blood
25	chr12:122585400-122601400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:122585600-122590400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:122585800-122590400	Weak transcription	A549	lung
28	chr12:122585800-122590800	Weak transcription	HMEC	breast
29	chr12:122586400-122591400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:122586800-122590400	Enhancers	Pancreas	Pancrea
31	chr12:122587200-122590400	Weak transcription	Brain Angular Gyrus	brain
32	chr12:122587200-122590600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:122587200-122590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:122587200-122590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:122587200-122591000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:122587200-122591200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:122587200-122591400	Weak transcription	NHDF-Ad	bronchial
38	chr12:122587400-122590400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:122587400-122590400	Weak transcription	Fetal Lung	lung
40	chr12:122587400-122590800	Weak transcription	Brain Anterior Caudate	brain
41	chr12:122587400-122591000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:122587400-122591200	Weak transcription	HSMM	muscle
43	chr12:122587400-122598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:122587600-122591400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:122587600-122591400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:122588200-122591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:122588400-122590400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:122588400-122591600	Enhancers	Fetal Muscle Leg	muscle
49	chr12:122588400-122593400	Enhancers	Colon Smooth Muscle	Colon
50	chr12:122588400-122593400	Enhancers	Rectal Smooth Muscle	rectum

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