Variant report

Variant	rs369460254
Chromosome Location	chr12:121149256-121149257
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
2	chr12:121148056..121150871-chr12:121436598..121439075,2	MCF-7	breast:
3	chr12:121021974..121024111-chr12:121148529..121150037,2	MCF-7	breast:
4	chr12:121133471..121136112-chr12:121146959..121149468,2	MCF-7	breast:
5	chr12:121148398..121150885-chr12:121151004..121154800,4	MCF-7	breast:
6	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
7	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
8	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
9	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000271769	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000256569	Chromatin interaction

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

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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3330833	chr12:121148056-121149683	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121147600-121149400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:121147800-121149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:121147800-121149600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:121147800-121149600	Active TSS	Fetal Kidney	kidney
5	chr12:121147800-121149600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:121148000-121149400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:121148000-121149400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:121148000-121149400	Active TSS	Fetal Intestine Large	intestine
9	chr12:121148000-121149400	Active TSS	Ovary	ovary
10	chr12:121148000-121149400	Active TSS	Psoas Muscle	Psoas
11	chr12:121148000-121149400	Active TSS	Small Intestine	intestine
12	chr12:121148000-121149600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:121148000-121149800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:121148000-121149800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:121148000-121150000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:121148000-121150000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:121148400-121149400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr12:121148400-121149800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:121148600-121149400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:121148600-121149600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr12:121148600-121149600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:121148600-121149600	Flanking Active TSS	Colonic Mucosa	Colon
23	chr12:121148600-121149800	Flanking Active TSS	Right Ventricle	heart
24	chr12:121148600-121149800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:121148600-121150000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:121148800-121149400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121148800-121149400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr12:121148800-121149400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr12:121148800-121149400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr12:121148800-121149400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr12:121148800-121149400	Flanking Active TSS	Liver	Liver
32	chr12:121148800-121149400	Flanking Active TSS	Fetal Brain Male	brain
33	chr12:121148800-121149400	Flanking Active TSS	Placenta	Placenta
34	chr12:121148800-121149600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:121148800-121149600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:121148800-121149600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:121148800-121149600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr12:121148800-121149600	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:121148800-121149600	Flanking Active TSS	Fetal Thymus	thymus
40	chr12:121148800-121149600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:121148800-121149600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:121148800-121149600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr12:121148800-121149600	Flanking Active TSS	HUVEC	blood vessel
44	chr12:121148800-121149800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr12:121148800-121149800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr12:121148800-121149800	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:121148800-121149800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr12:121148800-121149800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr12:121148800-121150200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:121149000-121149400	Flanking Active TSS	Primary T cells from cord blood	blood

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