Variant report

Variant	rs55673100
Chromosome Location	chr12:124513519-124513520
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1631624	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1686728	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716375	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716378	0.86[EUR][1000 genomes]
rs1716385	0.87[EUR][1000 genomes]
rs2451323	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2451325	0.82[EUR][1000 genomes]
rs707333	0.82[EUR][1000 genomes]
rs7138055	0.95[EUR][1000 genomes]
rs825464	0.82[EUR][1000 genomes]
rs825479	0.82[EUR][1000 genomes]
rs825497	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs866640	0.82[EUR][1000 genomes]

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:53 , 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	chr12:124508000-124513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:124508200-124515200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:124508400-124513800	Enhancers	Placenta	Placenta
9	chr12:124509600-124514400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:124509800-124513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:124509800-124514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:124509800-124514600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:124510200-124517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:124510600-124518400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:124510600-124520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:124510800-124515200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:124511000-124513600	Enhancers	HSMM	muscle
18	chr12:124511600-124514400	Weak transcription	NHLF	lung
19	chr12:124511800-124521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:124512000-124514200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:124512000-124514200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:124512000-124514400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:124512000-124514800	Weak transcription	HUVEC	blood vessel
24	chr12:124512200-124514200	Weak transcription	Osteobl	bone
25	chr12:124512200-124514400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:124512200-124514600	Weak transcription	NH-A	brain
27	chr12:124512400-124514200	Weak transcription	Fetal Intestine Small	intestine
28	chr12:124512400-124514400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:124512400-124516600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:124512400-124520600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:124512600-124513600	Enhancers	Thymus	Thymus
32	chr12:124512600-124514400	Weak transcription	Right Atrium	heart
33	chr12:124512600-124514600	Weak transcription	K562	blood
34	chr12:124512600-124515200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:124512600-124515600	Enhancers	Fetal Thymus	thymus
36	chr12:124512800-124513600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:124512800-124513600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:124512800-124513800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:124512800-124514400	Weak transcription	NHDF-Ad	bronchial
40	chr12:124513000-124514600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:124513000-124514600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:124513200-124513600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:124513200-124514400	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:124513200-124514400	Weak transcription	Psoas Muscle	Psoas
45	chr12:124513200-124514600	Weak transcription	Left Ventricle	heart
46	chr12:124513200-124514600	Weak transcription	Right Ventricle	heart
47	chr12:124513200-124514800	Weak transcription	Fetal Heart	heart
48	chr12:124513400-124513800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:124513400-124514400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:124513400-124514400	Weak transcription	Fetal Muscle Trunk	muscle

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