Variant report

Variant	rs2248166
Chromosome Location	chr7:19018571-19018572
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2526635	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2526636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2526641	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717342	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717348	1.00[AMR][1000 genomes]
rs2717352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2853558	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2965025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2965029	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58115597	1.00[AMR][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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032870	chr7:18982862-19021763	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538765	chr7:18982862-19021763	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1954883	chr7:19018571-19018572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18991400-19025000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:19011600-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:19011600-19018800	Enhancers	HMEC	breast
4	chr7:19011600-19018800	Enhancers	NHEK	skin
5	chr7:19012000-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:19012200-19018600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:19013800-19040800	Weak transcription	Aorta	Aorta
8	chr7:19015600-19020600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:19015800-19042400	Weak transcription	Left Ventricle	heart
10	chr7:19016400-19018600	Enhancers	HSMM	muscle
11	chr7:19016400-19018600	Enhancers	HUVEC	blood vessel
12	chr7:19016800-19018600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:19017200-19018600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:19017200-19018600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:19017200-19019600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:19017400-19019400	Enhancers	NHLF	lung
17	chr7:19017400-19026000	Weak transcription	HSMMtube	muscle
18	chr7:19017600-19022600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:19017600-19029800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:19017800-19018600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:19017800-19018600	Enhancers	Osteobl	bone
22	chr7:19017800-19018800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:19017800-19018800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:19017800-19019400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:19017800-19029800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:19018000-19018600	Enhancers	NH-A	brain
27	chr7:19018200-19018600	Enhancers	Hela-S3	cervix
28	chr7:19018400-19018600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:19018400-19018600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:19018400-19018600	Flanking Active TSS	NHDF-Ad	bronchial

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