Variant report

Variant	rs7729283
Chromosome Location	chr5:111567676-111567677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11241155	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11241156	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241158	0.81[ASN][1000 genomes]
rs11741200	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12520889	0.83[ASN][1000 genomes]
rs4958018	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4958019	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4958021	0.86[AFR][1000 genomes]
rs58264361	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6421836	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73229372	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7713405	0.83[ASN][1000 genomes]
rs7732687	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7734657	0.83[ASN][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111586400	Weak transcription	Gastric	stomach
2	chr5:111554200-111568400	Weak transcription	Right Atrium	heart
3	chr5:111558600-111584400	Weak transcription	Psoas Muscle	Psoas
4	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:111562200-111570200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:111562200-111574400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:111562400-111567800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:111562400-111570200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:111562400-111570800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:111562800-111572000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:111562800-111573000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:111564200-111581400	Weak transcription	Aorta	Aorta
13	chr5:111564600-111571000	Weak transcription	Spleen	Spleen
14	chr5:111564600-111571600	Enhancers	Hela-S3	cervix
15	chr5:111564600-111575800	Weak transcription	Esophagus	oesophagus
16	chr5:111564600-111576600	Weak transcription	Ovary	ovary
17	chr5:111564600-111580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:111564600-111586400	Weak transcription	Lung	lung
19	chr5:111564600-111590000	Weak transcription	Left Ventricle	heart
20	chr5:111564600-111609600	Weak transcription	Pancreas	Pancrea
21	chr5:111564800-111567800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:111564800-111567800	Weak transcription	Stomach Mucosa	stomach
23	chr5:111564800-111568200	Weak transcription	Adipose Nuclei	Adipose
24	chr5:111564800-111569400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:111564800-111571600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:111564800-111576000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:111564800-111577200	Weak transcription	Liver	Liver
28	chr5:111564800-111582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:111564800-111589400	Weak transcription	HUVEC	blood vessel
30	chr5:111565000-111568000	Weak transcription	A549	lung
31	chr5:111565000-111573800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:111565200-111567800	Weak transcription	NHEK	skin
33	chr5:111565200-111571000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:111566200-111570400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:111566600-111567800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:111566800-111567800	Weak transcription	HMEC	breast
37	chr5:111566800-111568000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:111567000-111567800	Weak transcription	Fetal Heart	heart
39	chr5:111567400-111602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:111567600-111569200	Enhancers	Rectal Mucosa Donor 31	rectum

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