Variant report

Variant	rs12721421
Chromosome Location	chr12:48359389-48359390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48296295..48301288-chr12:48356017..48360451,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11168436	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12721376	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12721379	1.00[AFR][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358000-48359400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr12:48358000-48359400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:48358000-48359600	Flanking Active TSS	Fetal Intestine Small	intestine
4	chr12:48358200-48359400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:48358200-48359600	Weak transcription	Gastric	stomach
6	chr12:48358200-48359600	Weak transcription	Left Ventricle	heart
7	chr12:48358200-48359600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr12:48358200-48359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48358200-48359800	Enhancers	Right Atrium	heart
10	chr12:48358200-48359800	Enhancers	Spleen	Spleen
11	chr12:48358200-48360200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:48358200-48360800	Weak transcription	Aorta	Aorta
13	chr12:48358200-48363200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:48358200-48364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:48358200-48366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:48358200-48366200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:48358400-48359400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:48358400-48359400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:48358400-48359400	Weak transcription	K562	blood
20	chr12:48358400-48359600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:48358400-48359600	Weak transcription	Thymus	Thymus
22	chr12:48358400-48359800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:48358400-48359800	Weak transcription	Fetal Stomach	stomach
24	chr12:48358400-48360200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:48358400-48360600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:48358400-48360800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:48358400-48360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:48358400-48361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:48358400-48361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:48358400-48361000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:48358400-48361000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:48358400-48361000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:48358400-48361000	Weak transcription	Liver	Liver
34	chr12:48358400-48361000	Weak transcription	Lung	lung
35	chr12:48358400-48361400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:48358400-48362000	Weak transcription	Esophagus	oesophagus
37	chr12:48358400-48362400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:48358400-48362400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:48358400-48362400	Weak transcription	Psoas Muscle	Psoas
40	chr12:48358400-48362800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:48358400-48362800	Weak transcription	NH-A	brain
42	chr12:48358400-48364600	Weak transcription	Ovary	ovary
43	chr12:48358400-48365000	Weak transcription	Osteobl	bone
44	chr12:48358400-48365200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:48358400-48366400	Weak transcription	Fetal Brain Male	brain
46	chr12:48358400-48367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:48358400-48367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:48358400-48369800	Weak transcription	Brain Angular Gyrus	brain
49	chr12:48358400-48373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:48358600-48359400	Weak transcription	Primary B cells from cord blood	blood

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