Variant report

Variant	rs72921518
Chromosome Location	chr4:121672422-121672423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55899802	1.00[AMR][1000 genomes]
rs56224440	1.00[AMR][1000 genomes]
rs56403890	1.00[AMR][1000 genomes]
rs57126955	1.00[AMR][1000 genomes]
rs72921512	1.00[AMR][1000 genomes]
rs72921531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921537	1.00[AMR][1000 genomes]
rs72921545	1.00[AMR][1000 genomes]
rs73843634	1.00[AMR][1000 genomes]
rs73843635	1.00[AMR][1000 genomes]
rs73843643	1.00[AMR][1000 genomes]
rs73843644	1.00[AMR][1000 genomes]
rs73843647	1.00[AMR][1000 genomes]
rs73843651	1.00[AMR][1000 genomes]
rs73843688	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121652000-121673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:121662400-121673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:121668400-121690400	Weak transcription	Osteobl	bone
5	chr4:121668600-121673600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr4:121669400-121672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:121670000-121675000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:121670400-121673000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:121670400-121673000	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr4:121670600-121673000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr4:121670600-121673800	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:121671000-121673000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:121671000-121675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:121671400-121673200	ZNF genes & repeats	Fetal Lung	lung
15	chr4:121671800-121684200	Weak transcription	Ovary	ovary
16	chr4:121671800-121697000	Weak transcription	Pancreas	Pancrea
17	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
18	chr4:121672000-121673000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr4:121672000-121673000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:121672000-121673800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:121672000-121676600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
23	chr4:121672200-121673000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr4:121672200-121673000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr4:121672200-121673000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:121672200-121673000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr4:121672200-121673400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:121672400-121672800	Weak transcription	Esophagus	oesophagus
29	chr4:121672400-121673000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:121672400-121673200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:121672400-121675000	Weak transcription	Fetal Intestine Large	intestine
32	chr4:121672400-121675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:121672400-121676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:121672400-121680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:121672400-121690400	Weak transcription	Lung	lung
36	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
37	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach

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