Variant report

Variant	rs538898424
Chromosome Location	chr2:47044283-47044284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47038600-47046400	Enhancers	Lung	lung
3	chr2:47038600-47046400	Enhancers	Right Atrium	heart
4	chr2:47038800-47046200	Enhancers	Right Ventricle	heart
5	chr2:47039800-47053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47040400-47045800	Weak transcription	HMEC	breast
7	chr2:47040600-47044800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:47040600-47045000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:47040600-47045200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:47040600-47045200	Weak transcription	HSMMtube	muscle
11	chr2:47042000-47044600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:47042200-47045000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:47042400-47044400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:47042400-47044600	Weak transcription	Ovary	ovary
15	chr2:47042400-47044600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:47042400-47045000	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:47042400-47047000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:47042400-47048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:47042600-47044600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:47042600-47045000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:47042600-47045000	Weak transcription	NHDF-Ad	bronchial
22	chr2:47042800-47044400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:47042800-47044600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:47042800-47053400	Weak transcription	Fetal Lung	lung
25	chr2:47043400-47045000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:47043800-47044600	Flanking Active TSS	Placenta	Placenta
27	chr2:47043800-47045000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:47043800-47046400	Enhancers	Fetal Heart	heart
29	chr2:47043800-47046400	Enhancers	Left Ventricle	heart
30	chr2:47044000-47044400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:47044000-47044400	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:47044000-47044400	Active TSS	Spleen	Spleen
33	chr2:47044000-47045000	Enhancers	Esophagus	oesophagus
34	chr2:47044000-47046000	Enhancers	Colon Smooth Muscle	Colon
35	chr2:47044000-47046200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:47044000-47046200	Enhancers	Psoas Muscle	Psoas
37	chr2:47044200-47044400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:47044200-47044400	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:47044200-47044400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr2:47044200-47044600	Weak transcription	Aorta	Aorta
41	chr2:47044200-47044600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:47044200-47046200	Enhancers	Adipose Nuclei	Adipose

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