Variant report

Variant	rs72923574
Chromosome Location	chr4:121824243-121824244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17050462	0.87[AFR][1000 genomes]
rs17051277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921594	0.84[AFR][1000 genomes]
rs72923505	0.84[AFR][1000 genomes]
rs72923553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923580	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923601	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925508	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
5	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
6	chr4:121811200-121824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:121812000-121831000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:121812000-121839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:121812400-121836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:121812800-121824400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:121812800-121839800	Weak transcription	Psoas Muscle	Psoas
12	chr4:121813000-121824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:121813000-121837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:121813400-121839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:121813400-121841600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:121813600-121839800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:121813800-121842400	Weak transcription	NHEK	skin
18	chr4:121814200-121839800	Weak transcription	Pancreas	Pancrea
19	chr4:121814600-121824600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:121814600-121824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:121814600-121828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:121814600-121829000	Weak transcription	Ovary	ovary
23	chr4:121814600-121830400	Weak transcription	Lung	lung
24	chr4:121814600-121836600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:121814600-121840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:121814600-121842600	Weak transcription	Right Ventricle	heart
27	chr4:121814800-121828200	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:121815200-121839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:121818000-121826600	Weak transcription	Left Ventricle	heart
30	chr4:121818000-121842400	Weak transcription	NH-A	brain
31	chr4:121820400-121826400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:121821000-121829200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:121821000-121839800	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:121821200-121840000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:121821400-121839800	Weak transcription	Fetal Stomach	stomach
36	chr4:121822400-121828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:121822600-121825200	Strong transcription	Aorta	Aorta
38	chr4:121823000-121825000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr4:121823200-121825000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:121823200-121826600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:121823400-121837800	Weak transcription	Fetal Kidney	kidney
42	chr4:121823600-121826800	Weak transcription	Fetal Brain Male	brain
43	chr4:121823600-121827800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:121823600-121827800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:121823600-121836400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:121823800-121824400	Genic enhancers	Fetal Intestine Large	intestine
47	chr4:121823800-121824600	Weak transcription	Fetal Intestine Small	intestine
48	chr4:121823800-121824800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:121823800-121825000	Strong transcription	Osteobl	bone
50	chr4:121823800-121825200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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