Variant report

Variant	rs545019240
Chromosome Location	chr12:124512047-124512048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124510880..124513172-chr12:125217385..125219889,2	K562	blood:
2	chr12:124456377..124458742-chr12:124511171..124513231,2	K562	blood:

Variant related genes	Relation type
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000178882	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124498400-124514600	Weak transcription	Spleen	Spleen
2	chr12:124498400-124517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:124499600-124521400	Weak transcription	Brain Germinal Matrix	brain
4	chr12:124500400-124513800	Weak transcription	Fetal Kidney	kidney
5	chr12:124500800-124514600	Weak transcription	Fetal Brain Female	brain
6	chr12:124507000-124513000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:124508000-124513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:124508200-124513400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:124508200-124515200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:124508400-124513400	Enhancers	Fetal Muscle Trunk	muscle
11	chr12:124508400-124513800	Enhancers	Placenta	Placenta
12	chr12:124508600-124512800	Enhancers	NHDF-Ad	bronchial
13	chr12:124509200-124513200	Enhancers	Fetal Muscle Leg	muscle
14	chr12:124509600-124512200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:124509600-124514400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:124509800-124513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:124509800-124514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:124509800-124514600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:124510200-124517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:124510600-124513200	Enhancers	Right Ventricle	heart
21	chr12:124510600-124518400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:124510600-124520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:124510800-124512200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:124510800-124512200	Enhancers	NH-A	brain
25	chr12:124510800-124512400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:124510800-124512400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:124510800-124515200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:124511000-124512400	Strong transcription	Fetal Intestine Small	intestine
29	chr12:124511000-124512600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:124511000-124512600	Flanking Active TSS	Fetal Heart	heart
31	chr12:124511000-124512600	Enhancers	Stomach Smooth Muscle	stomach
32	chr12:124511000-124513000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:124511000-124513200	Enhancers	Aorta	Aorta
34	chr12:124511000-124513200	Enhancers	Left Ventricle	heart
35	chr12:124511000-124513600	Enhancers	HSMM	muscle
36	chr12:124511200-124512600	Enhancers	K562	blood
37	chr12:124511200-124513200	Weak transcription	Brain Angular Gyrus	brain
38	chr12:124511400-124512400	Strong transcription	Fetal Stomach	stomach
39	chr12:124511400-124512600	Weak transcription	Thymus	Thymus
40	chr12:124511600-124512400	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:124511600-124512400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:124511600-124513200	Enhancers	Psoas Muscle	Psoas
43	chr12:124511600-124513400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:124511600-124514400	Weak transcription	NHLF	lung
45	chr12:124511800-124512200	Enhancers	Osteobl	bone
46	chr12:124511800-124512600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:124511800-124512800	Weak transcription	HMEC	breast
48	chr12:124511800-124513400	Enhancers	HSMMtube	muscle
49	chr12:124511800-124521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:124512000-124512200	Weak transcription	Brain Inferior Temporal Lobe	brain

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