Variant report

Variant	rs72923553
Chromosome Location	chr4:121803612-121803613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121801967..121804397-chr4:121806256..121807928,2	K562	blood:

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]
rs72923566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923574	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:22 , 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	chr4:121796800-121808400	Weak transcription	Left Ventricle	heart
3	chr4:121797000-121823800	Weak transcription	Osteobl	bone
4	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:121798800-121810600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:121798800-121814000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:121799000-121806800	Weak transcription	Ovary	ovary
8	chr4:121799200-121811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:121801200-121814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:121802200-121806400	Weak transcription	Fetal Lung	lung
11	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:121802600-121813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:121802800-121805800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:121802800-121813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:121803200-121813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:121803400-121804800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:121803400-121806200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:121803400-121810800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:121803400-121813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:121803400-121813800	Weak transcription	Pancreas	Pancrea
21	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
22	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links