Variant report

Variant	rs551284233
Chromosome Location	chr12:121148973-121148974
allele	A/C
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
ENSG00000265455	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000271769	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	chr12:121147800-121149000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr12:121147800-121149000	Active TSS	Aorta	Aorta
4	chr12:121147800-121149000	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:121147800-121149000	Active TSS	HSMMtube	muscle
6	chr12:121147800-121149200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:121147800-121149200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:121147800-121149200	Active TSS	Osteobl	bone
9	chr12:121147800-121149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:121147800-121149600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr12:121147800-121149600	Active TSS	Fetal Kidney	kidney
12	chr12:121147800-121149600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:121148000-121149000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:121148000-121149000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:121148000-121149000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:121148000-121149000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:121148000-121149000	Active TSS	Primary T cells from cord blood	blood
18	chr12:121148000-121149000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:121148000-121149000	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:121148000-121149000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:121148000-121149000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:121148000-121149000	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr12:121148000-121149000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:121148000-121149000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:121148000-121149000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:121148000-121149000	Active TSS	Brain Angular Gyrus	brain
27	chr12:121148000-121149000	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:121148000-121149000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:121148000-121149000	Active TSS	Brain Substantia Nigra	brain
30	chr12:121148000-121149000	Active TSS	Colon Smooth Muscle	Colon
31	chr12:121148000-121149000	Active TSS	Duodenum Mucosa	Duodenum
32	chr12:121148000-121149000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:121148000-121149000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:121148000-121149000	Active TSS	Stomach Mucosa	stomach
35	chr12:121148000-121149000	Active TSS	Thymus	Thymus
36	chr12:121148000-121149000	Active TSS	A549	lung
37	chr12:121148000-121149000	Active TSS	NH-A	brain
38	chr12:121148000-121149200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:121148000-121149200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:121148000-121149200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:121148000-121149200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:121148000-121149200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:121148000-121149200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:121148000-121149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:121148000-121149200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:121148000-121149200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:121148000-121149200	Active TSS	Brain Anterior Caudate	brain
48	chr12:121148000-121149200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:121148000-121149200	Active TSS	Esophagus	oesophagus
50	chr12:121148000-121149200	Active TSS	Fetal Intestine Small	intestine

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