Variant report

Variant	rs72940245
Chromosome Location	chr2:110405709-110405710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35888395	1.00[AMR][1000 genomes]
rs72940242	1.00[AMR][1000 genomes]
rs72940247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7606406	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110400600-110406600	Enhancers	Placenta	Placenta
2	chr2:110402600-110406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:110403000-110407200	Weak transcription	Adipose Nuclei	Adipose
4	chr2:110403000-110407600	Weak transcription	Stomach Mucosa	stomach
5	chr2:110403600-110405800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:110403800-110408200	Enhancers	HepG2	liver
7	chr2:110403800-110413200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:110404000-110407600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:110404000-110409400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:110404600-110406000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:110404600-110406000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:110405200-110405800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:110405200-110406000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:110405200-110406000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:110405200-110406600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:110405400-110405800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:110405400-110405800	Enhancers	NHEK	skin
18	chr2:110405400-110406000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:110405400-110406000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:110405400-110406000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:110405400-110406000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:110405400-110406000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:110405400-110406000	Enhancers	Hela-S3	cervix
24	chr2:110405400-110406000	Enhancers	HMEC	breast
25	chr2:110405400-110406000	Enhancers	NH-A	brain
26	chr2:110405400-110406000	Flanking Active TSS	Osteobl	bone
27	chr2:110405600-110405800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:110405600-110405800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:110405600-110405800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:110405600-110405800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:110405600-110405800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:110405600-110405800	Enhancers	Spleen	Spleen
33	chr2:110405600-110405800	Enhancers	HSMMtube	muscle
34	chr2:110405600-110406000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:110405600-110406000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:110405600-110406000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:110405600-110406000	Enhancers	NHDF-Ad	bronchial

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