Variant report

Variant	rs61424281
Chromosome Location	chr5:111675588-111675589
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11740736	0.91[ASN][1000 genomes]
rs12522544	0.87[ASN][1000 genomes]
rs4958041	0.95[ASN][1000 genomes]
rs57115499	0.95[ASN][1000 genomes]
rs57833268	0.98[ASN][1000 genomes]
rs58873819	0.94[ASN][1000 genomes]
rs6886968	0.85[ASN][1000 genomes]
rs7711922	0.92[ASN][1000 genomes]
rs7713495	0.82[ASN][1000 genomes]
rs7731919	0.92[ASN][1000 genomes]
rs7732390	0.89[ASN][1000 genomes]
rs987767	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111669400-111676000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:111669400-111678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:111669600-111677800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:111669800-111683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:111670000-111675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:111673000-111675800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:111673600-111676200	Enhancers	Left Ventricle	heart
9	chr5:111673600-111676200	Enhancers	Psoas Muscle	Psoas
10	chr5:111673600-111676800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:111674000-111675600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:111674000-111676200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:111674200-111675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:111674200-111678200	Weak transcription	Pancreas	Pancrea
15	chr5:111674400-111675600	Enhancers	HMEC	breast
16	chr5:111674400-111678000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:111674600-111675800	Weak transcription	Right Ventricle	heart
18	chr5:111674800-111675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:111674800-111675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:111674800-111675800	Weak transcription	Lung	lung
21	chr5:111674800-111678000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:111675000-111675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:111675000-111676000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:111675000-111676000	Enhancers	HUVEC	blood vessel
25	chr5:111675000-111677000	Enhancers	Hela-S3	cervix
26	chr5:111675000-111677800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:111675000-111677800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:111675000-111677800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:111675000-111678000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:111675000-111678000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:111675000-111678000	Enhancers	Fetal Heart	heart
32	chr5:111675000-111678000	Weak transcription	Gastric	stomach
33	chr5:111675000-111678200	Weak transcription	Adipose Nuclei	Adipose
34	chr5:111675000-111678200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:111675000-111678400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:111675000-111678600	Weak transcription	Brain Anterior Caudate	brain
37	chr5:111675000-111682800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:111675200-111675600	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:111675200-111675600	Weak transcription	Right Atrium	heart
40	chr5:111675200-111675800	Weak transcription	Fetal Lung	lung
41	chr5:111675400-111675800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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