Variant report

Variant	rs2114726
Chromosome Location	chr7:18467222-18467223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2520460	1.00[AFR][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	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18445600-18482000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:18447200-18468200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:18448200-18467800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:18460800-18468400	Weak transcription	Pancreas	Pancrea
5	chr7:18462000-18468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:18462400-18468600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:18462400-18469000	Weak transcription	Aorta	Aorta
8	chr7:18465800-18467400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:18465800-18467400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:18466200-18467600	Enhancers	HMEC	breast
11	chr7:18466400-18469000	Weak transcription	Hela-S3	cervix
12	chr7:18466800-18468400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:18466800-18468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:18466800-18468600	Weak transcription	HSMM	muscle
15	chr7:18467000-18467400	Enhancers	HUVEC	blood vessel
16	chr7:18467000-18468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:18467000-18468400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:18467000-18468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:18467000-18468400	Weak transcription	NHDF-Ad	bronchial
20	chr7:18467000-18468600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:18467000-18468600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:18467000-18468600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:18467000-18468600	Weak transcription	NHLF	lung
24	chr7:18467000-18469000	Weak transcription	NH-A	brain
25	chr7:18467000-18469000	Weak transcription	NHEK	skin
26	chr7:18467000-18469000	Weak transcription	Osteobl	bone
27	chr7:18467000-18469200	Strong transcription	Primary B cells from cord blood	blood
28	chr7:18467000-18469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:18467200-18468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:18467200-18468200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:18467200-18468600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:18467200-18468800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:18467200-18469000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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