Variant report

Variant	rs253110
Chromosome Location	chr5:106629621-106629622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs252690	0.89[EUR][1000 genomes]
rs252691	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34586	0.83[EUR][1000 genomes]
rs399945	0.89[EUR][1000 genomes]
rs411191	0.82[EUR][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	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106621800-106636600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:106626600-106630000	Weak transcription	Small Intestine	intestine
3	chr5:106627000-106629800	Weak transcription	Fetal Kidney	kidney
4	chr5:106628800-106630400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:106629000-106630000	Enhancers	Fetal Heart	heart
6	chr5:106629000-106630400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:106629000-106631000	Enhancers	Fetal Lung	lung
8	chr5:106629200-106630400	Enhancers	Primary B cells from cord blood	blood
9	chr5:106629200-106630400	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:106629200-106630400	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:106629200-106630400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:106629200-106630600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:106629200-106630800	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:106629200-106631200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:106629400-106630000	Enhancers	GM12878-XiMat	blood
16	chr5:106629400-106630200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:106629400-106630400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:106629400-106630600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:106629400-106630800	Enhancers	Fetal Intestine Small	intestine
20	chr5:106629400-106631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:106629600-106630000	Enhancers	Stomach Mucosa	stomach
22	chr5:106629600-106630400	Enhancers	Colon Smooth Muscle	Colon
23	chr5:106629600-106630600	Enhancers	Dnd41	blood
24	chr5:106629600-106631200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:106629600-106632400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:106629600-106632600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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