Variant report

Variant	rs58996233
Chromosome Location	chr5:16817542-16817543
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10045693	1.00[EUR][1000 genomes]
rs2625196	1.00[EUR][1000 genomes]
rs55850620	1.00[EUR][1000 genomes]
rs59897191	1.00[EUR][1000 genomes]
rs73055131	1.00[EUR][1000 genomes]
rs747058	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16795200-16829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:16804400-16827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:16807800-16820000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:16807800-16820000	Weak transcription	Esophagus	oesophagus
5	chr5:16810400-16819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:16810400-16819200	Weak transcription	Fetal Kidney	kidney
7	chr5:16810400-16821400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:16810600-16819200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:16810600-16819400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:16810600-16819400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:16810800-16817600	Weak transcription	NHEK	skin
12	chr5:16810800-16819200	Weak transcription	HSMM	muscle
13	chr5:16810800-16819200	Weak transcription	NHDF-Ad	bronchial
14	chr5:16810800-16819400	Weak transcription	Fetal Brain Male	brain
15	chr5:16811400-16819200	Weak transcription	HSMMtube	muscle
16	chr5:16812200-16820000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:16812600-16820000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:16812600-16829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:16812800-16819200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:16812800-16819600	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:16812800-16820000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:16812800-16820000	Weak transcription	Placenta	Placenta
23	chr5:16813400-16819800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:16813400-16820000	Weak transcription	Lung	lung
25	chr5:16813400-16820000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:16813800-16828200	Weak transcription	Fetal Intestine Small	intestine
27	chr5:16814000-16819200	Weak transcription	Osteobl	bone
28	chr5:16814000-16819400	Weak transcription	Ovary	ovary
29	chr5:16814200-16820000	Weak transcription	Gastric	stomach
30	chr5:16814200-16828000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:16814400-16819800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:16814400-16820000	Weak transcription	Pancreas	Pancrea
33	chr5:16814400-16820200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:16814400-16826600	Weak transcription	Fetal Stomach	stomach
35	chr5:16814600-16818000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:16815000-16820000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:16815400-16817600	Weak transcription	Fetal Intestine Large	intestine
38	chr5:16815800-16819200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:16816000-16817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:16816000-16819200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:16816000-16819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:16816200-16817600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:16816200-16817600	Weak transcription	HUVEC	blood vessel
44	chr5:16816200-16819400	Weak transcription	NHLF	lung
45	chr5:16816400-16818800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:16816600-16817600	Weak transcription	A549	lung
47	chr5:16816600-16818200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:16816800-16820000	Weak transcription	Hela-S3	cervix
49	chr5:16817000-16818000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:16817200-16818000	Strong transcription	Rectal Mucosa Donor 29	rectum

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