Variant report

Variant	rs200916127
Chromosome Location	chr5:5318365-5318366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3384076	chr5:5318326-5318816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5305600-5319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5305600-5326200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:5305800-5321400	Weak transcription	Fetal Kidney	kidney
4	chr5:5311400-5324800	Weak transcription	Ovary	ovary
5	chr5:5312200-5320000	Enhancers	Fetal Muscle Leg	muscle
6	chr5:5313800-5319400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:5314400-5318600	Weak transcription	Pancreas	Pancrea
8	chr5:5314400-5319000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:5314400-5326200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:5315200-5325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:5315600-5318400	Enhancers	Psoas Muscle	Psoas
12	chr5:5317000-5318600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:5317200-5318400	Weak transcription	NH-A	brain
14	chr5:5317200-5318800	Weak transcription	HSMM	muscle
15	chr5:5317200-5320000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:5317400-5318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:5317400-5318800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:5317400-5320000	Enhancers	HSMMtube	muscle
19	chr5:5317600-5319600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:5317800-5319000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:5317800-5320000	Enhancers	Fetal Muscle Trunk	muscle
22	chr5:5318000-5318400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:5318000-5318400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:5318000-5320000	Enhancers	Fetal Brain Male	brain
25	chr5:5318200-5318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:5318200-5318400	Enhancers	Brain Hippocampus Middle	brain
27	chr5:5318200-5319400	Enhancers	Fetal Brain Female	brain
28	chr5:5318200-5319800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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