Variant report

Variant	rs41493053
Chromosome Location	chr5:106826885-106826886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491394	0.86[JPT][hapmap]
rs153100	0.86[JPT][hapmap]
rs17534228	0.86[JPT][hapmap]
rs17534235	0.86[JPT][hapmap]
rs17594614	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs17594762	1.00[JPT][hapmap]
rs25740	1.00[CEU][hapmap]
rs26239	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap]
rs26241	1.00[CEU][hapmap]
rs26244	1.00[CEU][hapmap]
rs28764	1.00[CEU][hapmap]
rs2898622	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs41464645	0.86[JPT][hapmap]
rs6894788	0.86[JPT][hapmap]

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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106808400-106837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:106817600-106829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:106820600-106838200	Weak transcription	Fetal Brain Male	brain
4	chr5:106822400-106827600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:106822800-106832200	Weak transcription	HSMM	muscle
6	chr5:106823000-106827600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:106823000-106827600	Weak transcription	Placenta	Placenta
8	chr5:106823000-106834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:106823000-106837600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:106823200-106832600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:106823200-106837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:106823400-106828800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:106823400-106835400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:106823600-106834400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:106823600-106837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:106823800-106829000	Weak transcription	Stomach Mucosa	stomach
17	chr5:106823800-106834000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:106823800-106834200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:106823800-106835000	Weak transcription	A549	lung
20	chr5:106825800-106832000	Weak transcription	Right Atrium	heart
21	chr5:106825800-106835400	Weak transcription	HUVEC	blood vessel
22	chr5:106826200-106827000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:106826400-106828000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:106826600-106838400	Weak transcription	Left Ventricle	heart
25	chr5:106826800-106829000	Weak transcription	Fetal Heart	heart
26	chr5:106826800-106829800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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