Variant report

Variant	rs62472920
Chromosome Location	chr7:111447153-111447154
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62472880	1.00[AFR][1000 genomes]
rs62472919	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv5901	chr7:111428283-111472968	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:111436200-111468200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:111437600-111458800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:111438000-111448800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:111438400-111448600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:111438400-111459800	Weak transcription	Right Ventricle	heart
6	chr7:111438600-111458600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:111438800-111448800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:111439000-111448600	Weak transcription	HUVEC	blood vessel
9	chr7:111439200-111447200	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:111439600-111459400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:111440800-111448200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:111440800-111448800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:111441400-111472000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:111441600-111448600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:111441600-111461000	Weak transcription	Left Ventricle	heart
16	chr7:111441600-111461400	Weak transcription	Fetal Brain Male	brain
17	chr7:111441600-111488400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:111442600-111448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:111442600-111456400	Weak transcription	Brain Anterior Caudate	brain
20	chr7:111442600-111460200	Weak transcription	Pancreas	Pancrea
21	chr7:111442600-111461000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:111442600-111461200	Weak transcription	Lung	lung
23	chr7:111442600-111486000	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:111442800-111448200	Weak transcription	Adipose Nuclei	Adipose
25	chr7:111442800-111462400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:111442800-111472200	Weak transcription	Fetal Stomach	stomach
27	chr7:111443400-111456400	Weak transcription	Ovary	ovary
28	chr7:111443600-111448400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:111443600-111448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:111443600-111451400	Weak transcription	Osteobl	bone
31	chr7:111443600-111452200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:111443600-111467400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:111443600-111468200	Weak transcription	NH-A	brain
34	chr7:111443600-111471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:111443800-111450800	Weak transcription	A549	lung
36	chr7:111443800-111461200	Weak transcription	Aorta	Aorta
37	chr7:111443800-111462800	Weak transcription	HSMMtube	muscle
38	chr7:111443800-111468000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:111443800-111468000	Weak transcription	NHEK	skin
40	chr7:111444000-111448600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:111444000-111486400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:111444200-111482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:111444400-111447200	Strong transcription	Liver	Liver
44	chr7:111444400-111461200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:111444400-111475000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:111444400-111484800	Weak transcription	HepG2	liver
47	chr7:111444600-111448400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:111444600-111460600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:111445400-111448600	Weak transcription	Psoas Muscle	Psoas
50	chr7:111445400-111449200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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