Variant report

Variant	rs138816209
Chromosome Location	chr5:16748869-16748870
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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
2	chr5:16736800-16756600	Weak transcription	Ovary	ovary
3	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
4	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
5	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
6	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:16739200-16750600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:16739400-16758000	Weak transcription	Stomach Mucosa	stomach
10	chr5:16741000-16755800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:16741000-16758400	Weak transcription	Aorta	Aorta
12	chr5:16741200-16782000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:16741400-16754600	Weak transcription	Fetal Kidney	kidney
14	chr5:16741800-16761400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:16742200-16751800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:16742200-16752000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:16742200-16752600	Weak transcription	NHEK	skin
18	chr5:16742400-16757800	Weak transcription	Adipose Nuclei	Adipose
19	chr5:16742400-16761800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:16742400-16773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:16742600-16749000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:16742600-16749600	Weak transcription	NHLF	lung
23	chr5:16742600-16750000	Weak transcription	Brain Germinal Matrix	brain
24	chr5:16742800-16749600	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:16742800-16751200	Weak transcription	NHDF-Ad	bronchial
26	chr5:16742800-16754400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:16742800-16767800	Weak transcription	Fetal Brain Female	brain
28	chr5:16743400-16750600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:16743400-16753800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:16743400-16760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:16743600-16777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:16743800-16749800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:16744000-16754200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:16744000-16754200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:16744600-16749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:16744800-16749000	Weak transcription	Lung	lung
37	chr5:16744800-16749000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:16744800-16749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:16744800-16749800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:16744800-16750200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:16744800-16753800	Weak transcription	HSMM	muscle
42	chr5:16744800-16755600	Weak transcription	Fetal Lung	lung
43	chr5:16744800-16758400	Weak transcription	Gastric	stomach
44	chr5:16744800-16776800	Weak transcription	Left Ventricle	heart
45	chr5:16745000-16751400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:16745200-16752000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:16745800-16758600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:16746000-16778200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:16746200-16749800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:16746200-16753600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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