Variant report

Variant	rs80223797
Chromosome Location	chr12:122377510-122377511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122377347..122378938-chr12:122380678..122382509,2	MCF-7	breast:
2	chr12:122374906..122377528-chr12:122380651..122382178,2	K562	blood:
3	chr12:122368373..122372240-chr12:122375380..122377746,3	K562	blood:
4	chr12:122370965..122375121-chr12:122376467..122380328,6	K562	blood:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3526438	chr12:122377450-122377528	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3526439	chr12:122377454-122377526	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122357000-122380400	Weak transcription	Gastric	stomach
2	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:122363000-122384800	Weak transcription	Psoas Muscle	Psoas
4	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:122363200-122384600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:122363600-122383600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122363600-122383800	Weak transcription	Fetal Brain Male	brain
8	chr12:122363600-122385600	Weak transcription	Fetal Lung	lung
9	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
10	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
12	chr12:122365600-122385800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
15	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:122370600-122387800	Weak transcription	NHDF-Ad	bronchial
17	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
18	chr12:122372200-122379600	Weak transcription	NH-A	brain
19	chr12:122372200-122396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:122372400-122378600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:122372800-122393600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:122374000-122402800	Weak transcription	HSMM	muscle
23	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
24	chr12:122374800-122382200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:122375200-122380400	Weak transcription	Spleen	Spleen
26	chr12:122375400-122380400	Weak transcription	Lung	lung
27	chr12:122375400-122401400	Weak transcription	Ovary	ovary
28	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:122375600-122379800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:122375600-122379800	Weak transcription	Pancreas	Pancrea
31	chr12:122375600-122384000	Weak transcription	A549	lung
32	chr12:122375800-122378200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:122375800-122379800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:122375800-122379800	Weak transcription	HSMMtube	muscle
35	chr12:122375800-122380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:122375800-122380200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:122375800-122380200	Weak transcription	Fetal Stomach	stomach
38	chr12:122375800-122380200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:122375800-122380800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:122375800-122381800	Weak transcription	K562	blood
41	chr12:122375800-122384000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:122375800-122385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:122375800-122393600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:122375800-122415800	Weak transcription	Liver	Liver
45	chr12:122376000-122378200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:122376000-122379600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:122376000-122379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:122376000-122380200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:122376000-122380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:122376000-122382000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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