Variant report

Variant	rs536403074
Chromosome Location	chr2:54684811-54684812
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3403234	chr2:54681448-54686246	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3407657	chr2:54682273-54685021	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3392501	chr2:54682473-54685646	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54682000-54685000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:54682000-54685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr2:54682000-54685400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:54682000-54685600	Active TSS	Brain Substantia Nigra	brain
5	chr2:54682000-54686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:54682200-54685000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:54682200-54685200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:54682200-54685400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:54682200-54685400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:54682200-54685600	Active TSS	Fetal Kidney	kidney
11	chr2:54682200-54685800	Active TSS	Brain Germinal Matrix	brain
12	chr2:54682200-54686000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:54682200-54686200	Active TSS	Left Ventricle	heart
14	chr2:54682200-54686200	Active TSS	NHDF-Ad	bronchial
15	chr2:54682200-54686400	Active TSS	Aorta	Aorta
16	chr2:54682200-54687000	Active TSS	Ovary	ovary
17	chr2:54682200-54687000	Active TSS	Psoas Muscle	Psoas
18	chr2:54682200-54687600	Active TSS	Right Atrium	heart
19	chr2:54682400-54685000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:54682400-54685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:54682400-54685600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:54682400-54685600	Active TSS	Brain Angular Gyrus	brain
23	chr2:54682400-54685800	Active TSS	Esophagus	oesophagus
24	chr2:54682600-54685000	Active TSS	Fetal Brain Female	brain
25	chr2:54682600-54685200	Active TSS	Hela-S3	cervix
26	chr2:54682600-54685400	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:54682600-54685400	Active TSS	Colon Smooth Muscle	Colon
28	chr2:54682600-54685600	Active TSS	Brain Anterior Caudate	brain
29	chr2:54682600-54685600	Active TSS	Fetal Lung	lung
30	chr2:54682600-54685800	Active TSS	Brain Hippocampus Middle	brain
31	chr2:54682600-54685800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:54682600-54686000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:54682600-54686600	Active TSS	Lung	lung
34	chr2:54682800-54685000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr2:54682800-54685000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:54682800-54685000	Active TSS	Right Ventricle	heart
37	chr2:54682800-54685000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:54682800-54685200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:54682800-54685400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:54682800-54685400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr2:54682800-54685400	Active TSS	NH-A	brain
42	chr2:54682800-54685600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:54682800-54685600	Active TSS	Fetal Stomach	stomach
44	chr2:54682800-54685800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:54682800-54686000	Active TSS	NHLF	lung
46	chr2:54682800-54686200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:54682800-54686200	Active TSS	HSMM	muscle
48	chr2:54683000-54685000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:54683000-54685000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:54683000-54685000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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