Variant report

Variant	rs563299122
Chromosome Location	chr5:16737919-16737920
allele	A/G
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	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	nsv520128	chr5:16737513-16746784	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16730800-16741400	Strong transcription	A549	lung
2	chr5:16730800-16744400	Weak transcription	HSMM	muscle
3	chr5:16734600-16744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:16734800-16739200	Enhancers	Pancreas	Pancrea
5	chr5:16735000-16738600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:16735000-16738600	Enhancers	Fetal Lung	lung
7	chr5:16735000-16739400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:16735000-16739400	Enhancers	Stomach Mucosa	stomach
9	chr5:16735200-16738200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:16735200-16738400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:16735200-16746600	Weak transcription	HSMMtube	muscle
12	chr5:16735400-16738000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:16735600-16738400	Enhancers	NH-A	brain
14	chr5:16735800-16738400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:16736000-16738200	Bivalent/Poised TSS	HepG2	liver
16	chr5:16736000-16738400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:16736000-16738400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:16736000-16738800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:16736200-16738000	Flanking Active TSS	Fetal Brain Female	brain
20	chr5:16736200-16738400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:16736200-16738400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:16736200-16738400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:16736200-16738600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:16736400-16738800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:16736400-16739200	Enhancers	HMEC	breast
26	chr5:16736400-16740200	Weak transcription	Right Ventricle	heart
27	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
28	chr5:16736600-16738600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:16736600-16738600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:16736600-16738800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr5:16736600-16740400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:16736800-16738000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr5:16736800-16738200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:16736800-16738600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr5:16736800-16738600	Active TSS	Brain Germinal Matrix	brain
36	chr5:16736800-16738600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:16736800-16738800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:16736800-16739200	Enhancers	HUVEC	blood vessel
39	chr5:16736800-16740200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:16736800-16740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:16736800-16741800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:16736800-16756600	Weak transcription	Ovary	ovary
43	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
44	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
45	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
46	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:16737000-16738000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:16737000-16738200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:16737000-16738400	Active TSS	Brain Anterior Caudate	brain
50	chr5:16737000-16738400	Active TSS	Fetal Intestine Small	intestine

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