Variant report

Variant	rs532468115
Chromosome Location	chr12:122362602-122362603
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	chr12:122232615..122235866-chr12:122360663..122363500,3	K562	blood:

Variant related genes	Relation type
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3449559	chr12:122362248-122362692	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122354200-122363000	Weak transcription	Small Intestine	intestine
2	chr12:122355600-122364800	Weak transcription	K562	blood
3	chr12:122356400-122363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122356600-122362800	Weak transcription	HSMMtube	muscle
5	chr12:122356800-122362800	Weak transcription	Left Ventricle	heart
6	chr12:122356800-122362800	Weak transcription	HSMM	muscle
7	chr12:122356800-122363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:122357000-122362800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:122357000-122362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:122357000-122362800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:122357000-122362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:122357000-122362800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:122357000-122362800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:122357000-122362800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:122357000-122362800	Weak transcription	Fetal Thymus	thymus
16	chr12:122357000-122363000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122357000-122363000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122357000-122363000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:122357000-122363000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:122357000-122370200	Weak transcription	Brain Anterior Caudate	brain
21	chr12:122357000-122370600	Weak transcription	Aorta	Aorta
22	chr12:122357000-122380400	Weak transcription	Gastric	stomach
23	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
24	chr12:122357400-122362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:122357400-122362800	Weak transcription	Brain Angular Gyrus	brain
26	chr12:122357600-122362800	Weak transcription	NHLF	lung
27	chr12:122359600-122364600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:122359600-122364800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:122360000-122364400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:122360600-122363000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:122360600-122364800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:122361200-122362800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:122361400-122362800	Enhancers	GM12878-XiMat	blood
34	chr12:122361400-122363600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:122361600-122362800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:122361600-122362800	Enhancers	Fetal Muscle Leg	muscle
37	chr12:122361600-122362800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:122361600-122362800	Enhancers	A549	lung
39	chr12:122361600-122362800	Enhancers	HUVEC	blood vessel
40	chr12:122361600-122362800	Enhancers	Osteobl	bone
41	chr12:122361600-122363600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:122361600-122365400	Weak transcription	Brain Substantia Nigra	brain
43	chr12:122361600-122366000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122361800-122362800	Weak transcription	NHEK	skin
45	chr12:122361800-122363600	Enhancers	Placenta	Placenta
46	chr12:122361800-122363600	Enhancers	HepG2	liver
47	chr12:122362000-122362800	Enhancers	Fetal Muscle Trunk	muscle
48	chr12:122362000-122362800	Weak transcription	NHDF-Ad	bronchial
49	chr12:122362000-122363600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:122362000-122363600	Enhancers	Lung	lung

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