Variant report

Variant	rs4722651
Chromosome Location	chr7:26950116-26950117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11563293	1.00[AMR][1000 genomes]
rs11563452	1.00[AMR][1000 genomes]
rs11563591	1.00[AMR][1000 genomes]
rs11564061	1.00[AMR][1000 genomes]
rs17154639	1.00[AMR][1000 genomes]
rs17154647	1.00[AMR][1000 genomes]
rs17464516	0.89[AFR][1000 genomes]
rs17464618	0.94[AFR][1000 genomes]
rs17464950	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17464971	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17465076	1.00[AMR][1000 genomes]
rs17465282	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs17465309	1.00[AMR][1000 genomes]
rs17499833	0.86[AFR][1000 genomes]
rs17500092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17500326	1.00[AMR][1000 genomes]
rs17500417	1.00[AMR][1000 genomes]
rs4722649	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722652	0.87[AFR][1000 genomes]
rs4722653	0.98[AFR][1000 genomes]
rs6461981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6960055	1.00[AMR][1000 genomes]
rs6961068	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26948200-26950400	Enhancers	NHEK	skin
2	chr7:26948400-26950400	Enhancers	HMEC	breast
3	chr7:26948400-26950400	Enhancers	HUVEC	blood vessel
4	chr7:26948400-26950600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:26948400-26950800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:26948600-26950600	Enhancers	Hela-S3	cervix
7	chr7:26949000-26950400	Enhancers	A549	lung
8	chr7:26949200-26950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:26949200-26950400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:26949200-26950400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:26949400-26950400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:26949400-26950400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:26949400-26950400	Enhancers	HepG2	liver
14	chr7:26949400-26950600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:26949400-26950600	Enhancers	NHDF-Ad	bronchial
16	chr7:26949600-26950200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:26949600-26950400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:26949600-26950400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:26949600-26950600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:26949600-26951200	Weak transcription	Primary B cells from cord blood	blood
21	chr7:26949800-26950200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr7:26949800-26950200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:26949800-26950200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:26949800-26950200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:26949800-26950200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:26949800-26950200	Enhancers	Ovary	ovary
27	chr7:26950000-26950400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr7:26950000-26950400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:26950000-26952400	Enhancers	Primary monocytes fromperipheralblood	blood

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