Variant report

Variant	rs72680473
Chromosome Location	chr4:121813427-121813428
allele	A/G
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:13)

rs_ID	r²[population]
rs2122512	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55841702	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311699	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56407223	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72680456	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72680460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680463	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680471	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680495	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680500	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682205	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693258	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv980152	chr4:121807702-121817738	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:121797000-121823800	Weak transcription	Osteobl	bone
3	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:121798800-121814000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:121801200-121814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:121802600-121813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:121802800-121813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:121803200-121813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:121803400-121813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:121803400-121813800	Weak transcription	Pancreas	Pancrea
12	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
13	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
14	chr4:121804200-121822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
16	chr4:121807400-121813800	Weak transcription	Ovary	ovary
17	chr4:121811200-121813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:121811200-121813600	Weak transcription	Fetal Lung	lung
19	chr4:121811200-121813800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:121811200-121824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:121811400-121813800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:121812000-121831000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:121812000-121839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:121812400-121836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:121812600-121813800	Weak transcription	Right Ventricle	heart
26	chr4:121812800-121823000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:121812800-121824400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:121812800-121839800	Weak transcription	Psoas Muscle	Psoas
29	chr4:121813000-121813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:121813000-121824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:121813000-121837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:121813200-121824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:121813400-121814600	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr4:121813400-121839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:121813400-121841600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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