Variant report

Variant	rs59233189
Chromosome Location	chr5:16809922-16809923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1564651	1.00[AMR][1000 genomes]
rs253475	1.00[AMR][1000 genomes]
rs253477	1.00[AMR][1000 genomes]
rs2560857	1.00[AMR][1000 genomes]
rs2560859	1.00[AMR][1000 genomes]
rs7720898	1.00[AMR][1000 genomes]

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	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
2	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
3	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
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv597309	chr5:16791857-16837862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16783400-16810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:16795200-16829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:16797400-16817400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:16799000-16812200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:16802200-16811400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:16804400-16827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:16804600-16810200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:16805600-16811800	Enhancers	Fetal Muscle Leg	muscle
9	chr5:16805800-16811400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:16806000-16811000	Enhancers	Fetal Muscle Trunk	muscle
11	chr5:16807600-16810000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:16807800-16820000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:16807800-16820000	Weak transcription	Esophagus	oesophagus
14	chr5:16808000-16810000	Weak transcription	Psoas Muscle	Psoas
15	chr5:16808000-16814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:16808200-16814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:16808800-16810800	Enhancers	Fetal Brain Male	brain
18	chr5:16809000-16810200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:16809000-16814200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:16809200-16810000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:16809200-16810000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:16809200-16810200	Enhancers	Fetal Lung	lung
23	chr5:16809200-16810200	Enhancers	Ovary	ovary
24	chr5:16809200-16810200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:16809200-16810400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:16809200-16810400	ZNF genes & repeats	Right Atrium	heart
27	chr5:16809200-16810400	Enhancers	HMEC	breast
28	chr5:16809200-16810600	Enhancers	Fetal Brain Female	brain
29	chr5:16809200-16810600	Genic enhancers	Fetal Stomach	stomach
30	chr5:16809200-16810600	Enhancers	Left Ventricle	heart
31	chr5:16809200-16810800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:16809200-16810800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:16809200-16810800	Enhancers	Pancreas	Pancrea
34	chr5:16809200-16810800	Enhancers	NHEK	skin
35	chr5:16809200-16811000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:16809200-16811600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:16809200-16813400	Enhancers	Lung	lung
38	chr5:16809200-16814200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:16809400-16810000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:16809400-16810000	Flanking Active TSS	HepG2	liver
41	chr5:16809400-16810400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:16809400-16810400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:16809400-16810400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:16809400-16810400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:16809400-16810400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:16809400-16810400	Enhancers	Brain Germinal Matrix	brain
47	chr5:16809400-16810400	Enhancers	Fetal Kidney	kidney
48	chr5:16809400-16810400	Enhancers	Right Ventricle	heart
49	chr5:16809400-16810400	Flanking Active TSS	HSMM	muscle
50	chr5:16809400-16810600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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