Variant report

Variant	rs153114
Chromosome Location	chr5:106773195-106773196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12523318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs153133	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17533525	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1835111	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3909931	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs526521	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537500	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.95[ASN][1000 genomes]

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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106758600-106785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:106763200-106773600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106763200-106773600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:106766400-106775200	Weak transcription	Aorta	Aorta
5	chr5:106768600-106773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:106768600-106774200	Weak transcription	NHEK	skin
7	chr5:106768600-106775000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:106768600-106778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:106768600-106779000	Weak transcription	HSMM	muscle
10	chr5:106771000-106773200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:106771000-106774200	Enhancers	Fetal Brain Female	brain
12	chr5:106771400-106773200	Enhancers	Fetal Lung	lung
13	chr5:106771400-106773600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:106771600-106774600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:106771800-106773200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:106772000-106774000	Enhancers	Brain Germinal Matrix	brain
17	chr5:106772400-106774000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:106772400-106774400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:106772400-106775200	Weak transcription	Right Ventricle	heart
20	chr5:106772600-106774000	Weak transcription	Right Atrium	heart
21	chr5:106772600-106774200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:106772600-106774200	Weak transcription	Fetal Stomach	stomach
23	chr5:106772600-106774200	Weak transcription	A549	lung
24	chr5:106772600-106779000	Weak transcription	Left Ventricle	heart
25	chr5:106772600-106790800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:106773000-106773200	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:106773000-106773400	Weak transcription	Fetal Heart	heart
28	chr5:106773000-106774200	Enhancers	Fetal Brain Male	brain

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