Variant report

Variant	rs372975943
Chromosome Location	chr5:126900775-126900776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv4990	chr5:126899519-126920342	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
2	chr5:126888200-126901400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:126888200-126901600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:126888400-126901800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:126889600-126903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:126890000-126902200	Weak transcription	Fetal Thymus	thymus
7	chr5:126890000-126903400	Weak transcription	Primary T cells from cord blood	blood
8	chr5:126890200-126901600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:126890400-126901000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:126890400-126907000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:126891200-126902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:126891600-126902800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:126897800-126901200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:126897800-126901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:126897800-126901800	Weak transcription	HSMM	muscle
16	chr5:126898000-126902600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:126898200-126903800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:126898400-126900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:126898400-126901200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:126898600-126900800	Weak transcription	Psoas Muscle	Psoas
21	chr5:126899200-126903200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:126899800-126900800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:126899800-126901000	Enhancers	GM12878-XiMat	blood
24	chr5:126900000-126903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:126900400-126904600	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:126900600-126901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:126900600-126902200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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