Variant report

Variant	rs26248
Chromosome Location	chr5:106839280-106839281
allele	A/T
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:19)

rs_ID	r²[population]
rs10491394	0.92[GIH][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1154314	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs1196516	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs17449791	0.84[EUR][1000 genomes]
rs17534228	0.84[EUR][1000 genomes]
rs17534235	0.84[EUR][1000 genomes]
rs17534270	0.85[TSI][hapmap]
rs26244	0.83[JPT][hapmap]
rs26249	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs26252	0.84[CHB][hapmap]
rs27362	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs28764	0.83[JPT][hapmap]
rs32005	0.84[CHB][hapmap]
rs32006	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs41464645	0.92[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs67437152	0.85[EUR][1000 genomes]
rs6894788	0.88[CEU][hapmap];0.96[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs72789644	0.83[EUR][1000 genomes]
rs72789654	0.84[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	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106833200-106839400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:106834200-106840400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:106834400-106840000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:106834400-106848600	Weak transcription	HMEC	breast
5	chr5:106836400-106855800	Weak transcription	Aorta	Aorta
6	chr5:106836600-106841000	Weak transcription	Stomach Mucosa	stomach
7	chr5:106836800-106841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:106837800-106839600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:106837800-106841600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:106837800-106842400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:106838000-106839600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:106838200-106848600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:106838200-106850000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:106838400-106840800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:106838400-106845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:106838400-106848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:106838400-106851800	Weak transcription	NHDF-Ad	bronchial
18	chr5:106838600-106839400	Enhancers	Fetal Kidney	kidney
19	chr5:106838600-106841000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:106838600-106841200	Weak transcription	Fetal Lung	lung
21	chr5:106838600-106842200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:106838600-106842200	Weak transcription	Gastric	stomach
23	chr5:106838600-106843800	Weak transcription	Left Ventricle	heart
24	chr5:106838600-106850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:106838600-106855600	Weak transcription	Right Ventricle	heart
26	chr5:106838800-106841000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:106838800-106841000	Weak transcription	Fetal Heart	heart
28	chr5:106838800-106841200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:106838800-106843200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:106838800-106847800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:106838800-106848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:106839000-106840400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:106839000-106841600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:106839000-106841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:106839000-106841600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:106839000-106841600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:106839000-106841600	Weak transcription	Fetal Stomach	stomach
38	chr5:106839000-106841600	Weak transcription	GM12878-XiMat	blood
39	chr5:106839200-106839600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:106839200-106840000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:106839200-106840400	Weak transcription	A549	lung
42	chr5:106839200-106841200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:106839200-106841600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:106839200-106847600	Weak transcription	Dnd41	blood
45	chr5:106839200-106855600	Weak transcription	HSMM	muscle

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