Variant report

Variant	rs27550
Chromosome Location	chr5:106971568-106971569
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:22)

rs_ID	r²[population]
rs1363870	1.00[CHB][hapmap]
rs149382	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs154191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs164691	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs164693	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs164694	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164695	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164696	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164837	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs164970	0.87[ASN][1000 genomes]
rs26725	0.88[GIH][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs26728	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs26729	1.00[CHB][hapmap]
rs26730	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26735	0.86[CHB][hapmap]
rs27551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352602	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs35419	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs35533	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs35534	0.85[CHB][hapmap]
rs42449	1.00[CHB][hapmap]
rs6887589	0.85[CHB][hapmap];0.86[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106942400-106981600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:106964600-106972400	Weak transcription	Fetal Heart	heart
3	chr5:106966800-106979600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:106967000-106972200	Weak transcription	Fetal Lung	lung
5	chr5:106967400-106973200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:106968400-106977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:106969200-106972000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:106969200-106972600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:106969400-106978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:106969600-106972400	Weak transcription	Ovary	ovary
11	chr5:106969600-106972400	Weak transcription	Right Atrium	heart
12	chr5:106969600-106972800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:106969600-106988600	Weak transcription	Fetal Stomach	stomach
14	chr5:106970200-106972400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:106970200-106972800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:106970200-106985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:106970400-106972200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:106970600-106971600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:106970600-106972200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:106970800-106971600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:106970800-106971600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:106970800-106971600	Enhancers	A549	lung
23	chr5:106970800-106971800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:106970800-106972200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:106971000-106971600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:106971000-106971600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:106971000-106971600	Enhancers	GM12878-XiMat	blood
28	chr5:106971000-106972000	Enhancers	Adipose Nuclei	Adipose
29	chr5:106971000-106972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:106971000-106972600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:106971000-106972800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:106971200-106971600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:106971200-106971600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:106971200-106971600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr5:106971200-106972200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:106971200-106972200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:106971400-106971600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:106971400-106971600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:106971400-106972800	Enhancers	Fetal Kidney	kidney
40	chr5:106971400-106973200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:106971400-106973200	Enhancers	Osteobl	bone

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