Variant report

Variant	rs26244
Chromosome Location	chr5:106818343-106818344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1196516	0.83[JPT][hapmap]
rs17594614	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap]
rs25740	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs25964	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs25965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26235	1.00[EUR][1000 genomes]
rs26239	1.00[CEU][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs26241	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs26243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26248	0.83[JPT][hapmap]
rs28024	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28112	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28208	0.82[ASN][1000 genomes]
rs28764	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2898622	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap]
rs29542	0.86[YRI][hapmap]
rs41493053	1.00[CEU][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106805600-106822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106806000-106825600	Weak transcription	Aorta	Aorta
3	chr5:106806200-106822200	Weak transcription	HSMM	muscle
4	chr5:106808400-106837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:106808600-106822600	Weak transcription	Gastric	stomach
6	chr5:106808800-106822800	Weak transcription	Left Ventricle	heart
7	chr5:106809000-106822800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:106811600-106819200	Weak transcription	Fetal Lung	lung
9	chr5:106813000-106819200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:106813200-106821400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:106814000-106818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:106814000-106819000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:106814000-106821600	Weak transcription	Right Ventricle	heart
14	chr5:106814200-106819000	Weak transcription	GM12878-XiMat	blood
15	chr5:106814200-106819000	Weak transcription	NHDF-Ad	bronchial
16	chr5:106814400-106819400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:106814400-106819400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:106814400-106821000	Weak transcription	HMEC	breast
19	chr5:106814600-106818800	Weak transcription	Fetal Kidney	kidney
20	chr5:106815000-106821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:106815000-106823000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:106815200-106822800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:106815400-106818800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:106815400-106818800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:106815400-106819400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:106815400-106820800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:106815400-106821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:106815600-106819000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:106815600-106819800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:106815600-106822600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:106815800-106818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:106815800-106821000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:106816000-106818600	Enhancers	A549	lung
34	chr5:106816200-106822800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:106816400-106818600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:106817200-106819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:106817200-106822400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:106817400-106821800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:106817600-106820400	Enhancers	Fetal Heart	heart
40	chr5:106817600-106825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:106817600-106829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:106817800-106818400	Enhancers	Right Atrium	heart
43	chr5:106818000-106818400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:106818200-106818400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:106818200-106818400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:106818200-106818400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:106818200-106818400	Enhancers	Stomach Mucosa	stomach
48	chr5:106818200-106821600	Enhancers	HUES64 Cell Line	embryonic stem cell

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