Variant report

Variant	rs73002523
Chromosome Location	chr2:134433447-134433448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16827264	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73000585	1.00[AMR][1000 genomes]

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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134432000-134434800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:134432200-134441000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:134432600-134433600	Enhancers	Fetal Brain Male	brain
4	chr2:134432600-134433800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:134432600-134434200	Enhancers	Fetal Stomach	stomach
6	chr2:134432800-134433600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:134432800-134433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:134432800-134433800	Weak transcription	Left Ventricle	heart
9	chr2:134432800-134434000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:134432800-134434400	Enhancers	Brain Germinal Matrix	brain
11	chr2:134432800-134434400	Enhancers	Fetal Kidney	kidney
12	chr2:134432800-134434400	Enhancers	Fetal Lung	lung
13	chr2:134432800-134434400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:134432800-134434800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:134432800-134435200	Enhancers	NHLF	lung
16	chr2:134433000-134433600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:134433000-134433600	Enhancers	Osteobl	bone
18	chr2:134433000-134433800	Weak transcription	Psoas Muscle	Psoas
19	chr2:134433000-134433800	Weak transcription	Right Atrium	heart
20	chr2:134433000-134434200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:134433000-134434400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:134433000-134434400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:134433000-134434400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:134433000-134434400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:134433000-134434400	Enhancers	NHEK	skin
26	chr2:134433000-134434800	Enhancers	Brain Anterior Caudate	brain
27	chr2:134433000-134435000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:134433000-134435000	Enhancers	NHDF-Ad	bronchial
29	chr2:134433000-134435200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:134433000-134441200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:134433200-134433600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:134433200-134433600	Enhancers	Brain Substantia Nigra	brain
33	chr2:134433200-134433800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:134433200-134433800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:134433200-134433800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:134433200-134434000	Enhancers	Brain Angular Gyrus	brain
37	chr2:134433200-134434000	Enhancers	Fetal Brain Female	brain
38	chr2:134433200-134434200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:134433200-134434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:134433200-134434400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:134433200-134434600	Enhancers	HSMMtube	muscle
42	chr2:134433200-134434800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:134433200-134434800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:134433200-134434800	Enhancers	NH-A	brain
45	chr2:134433200-134435200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:134433400-134433600	Enhancers	Fetal Heart	heart
47	chr2:134433400-134434400	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:134433400-134434600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:134433400-134434600	Enhancers	Brain Hippocampus Middle	brain
50	chr2:134433400-134435000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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