Variant report

Variant	rs72621832
Chromosome Location	chr4:121759873-121759874
allele	A/C
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:11)

rs_ID	r²[population]
rs13110308	0.83[ASN][1000 genomes]
rs13116962	0.80[ASN][1000 genomes]
rs13124620	0.80[ASN][1000 genomes]
rs1849074	0.85[ASN][1000 genomes]
rs2390053	0.86[ASN][1000 genomes]
rs3789140	0.81[ASN][1000 genomes]
rs56147303	0.85[ASN][1000 genomes]
rs67704505	0.85[ASN][1000 genomes]
rs6825664	0.80[ASN][1000 genomes]
rs6827372	0.81[ASN][1000 genomes]
rs6851591	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
4	chr4:121743800-121765400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:121750400-121768400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:121751600-121762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:121753400-121762600	Weak transcription	Osteobl	bone
8	chr4:121754600-121760000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:121755800-121760000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:121755800-121774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:121756000-121760000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:121756000-121762200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:121756000-121762200	Weak transcription	Fetal Lung	lung
14	chr4:121756600-121763600	Weak transcription	Esophagus	oesophagus
15	chr4:121756800-121760400	Weak transcription	Fetal Heart	heart
16	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
17	chr4:121757200-121760200	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:121757200-121760800	Weak transcription	Left Ventricle	heart
19	chr4:121758200-121765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:121758200-121770400	Weak transcription	HSMM	muscle
21	chr4:121758200-121774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:121758400-121761800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:121758600-121760800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:121758800-121763000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:121759200-121760000	Weak transcription	Right Ventricle	heart
26	chr4:121759400-121762800	Weak transcription	NHLF	lung
27	chr4:121759600-121760400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:121759600-121760600	Strong transcription	Ovary	ovary
29	chr4:121759600-121761600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:121759600-121762200	Strong transcription	Fetal Stomach	stomach
31	chr4:121759600-121775400	Weak transcription	Gastric	stomach
32	chr4:121759800-121760400	Strong transcription	Lung	lung
33	chr4:121759800-121761000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:121759800-121761400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:121759800-121762000	Strong transcription	Fetal Intestine Small	intestine

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