Variant report

Variant	rs26249
Chromosome Location	chr5:106838407-106838408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1154314	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap]
rs1196516	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs17594762	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs26248	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs26252	0.92[CHB][hapmap];0.82[YRI][hapmap]
rs27362	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[MKK][hapmap];0.82[YRI][hapmap]
rs32006	0.92[CHB][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:57 , 50 per page) page: 1 2

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	chr5:106834600-106838800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:106835200-106839200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:106836400-106855800	Weak transcription	Aorta	Aorta
8	chr5:106836600-106841000	Weak transcription	Stomach Mucosa	stomach
9	chr5:106836800-106841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:106837400-106839200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:106837400-106839200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:106837600-106838600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:106837600-106838600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:106837600-106838600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:106837600-106838600	Flanking Active TSS	Fetal Lung	lung
16	chr5:106837600-106838600	Enhancers	Right Ventricle	heart
17	chr5:106837600-106838800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:106837600-106838800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:106837600-106838800	Enhancers	Fetal Thymus	thymus
20	chr5:106837600-106838800	Enhancers	NHEK	skin
21	chr5:106837600-106839000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:106837800-106838600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr5:106837800-106838600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr5:106837800-106838600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:106837800-106838600	Active TSS	Fetal Stomach	stomach
26	chr5:106837800-106838600	Flanking Active TSS	Dnd41	blood
27	chr5:106837800-106838800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:106837800-106838800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:106837800-106839000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:106837800-106839600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:106837800-106841600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:106837800-106842400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:106838000-106838600	Enhancers	Placenta	Placenta
34	chr5:106838000-106838600	Flanking Active TSS	HUVEC	blood vessel
35	chr5:106838000-106838800	Enhancers	Fetal Heart	heart
36	chr5:106838000-106839600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:106838200-106838600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:106838200-106838800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:106838200-106838800	Enhancers	Fetal Brain Male	brain
40	chr5:106838200-106839000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:106838200-106839200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:106838200-106839200	Enhancers	A549	lung
43	chr5:106838200-106839200	Strong transcription	HSMM	muscle
44	chr5:106838200-106848600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:106838200-106850000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:106838400-106838600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:106838400-106838600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr5:106838400-106838600	Flanking Active TSS	Fetal Kidney	kidney
49	chr5:106838400-106838600	Enhancers	Gastric	stomach
50	chr5:106838400-106838600	Enhancers	Left Ventricle	heart

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