Variant report

Variant	rs12374349
Chromosome Location	chr4:119819888-119819889
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	chr4:119818599..119820819-chr4:119823685..119826522,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10021334	0.81[ASN][1000 genomes]
rs10518319	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11098461	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098462	0.81[ASN][1000 genomes]
rs11725297	0.81[ASN][1000 genomes]
rs57672192	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58608417	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60919368	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62326792	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72671606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654417	0.81[ASN][1000 genomes]
rs7676506	0.81[ASN][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119811800-119820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:119812200-119825400	Weak transcription	Psoas Muscle	Psoas
3	chr4:119815600-119826200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:119815800-119825800	Weak transcription	Fetal Stomach	stomach
5	chr4:119816800-119824800	Weak transcription	Left Ventricle	heart
6	chr4:119817000-119823000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:119817000-119830000	Weak transcription	Right Ventricle	heart
8	chr4:119817400-119820400	Enhancers	Colon Smooth Muscle	Colon
9	chr4:119818200-119821000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:119818400-119820200	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:119818800-119820200	Enhancers	Right Atrium	heart
12	chr4:119818800-119820400	Enhancers	Fetal Heart	heart
13	chr4:119819000-119825800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:119819200-119820400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr4:119819400-119820200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr4:119819400-119820200	Enhancers	HSMMtube	muscle
17	chr4:119819600-119821000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr4:119819800-119820000	Flanking Active TSS	Aorta	Aorta
19	chr4:119819800-119820200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:119819800-119820200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr4:119819800-119820400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:119819800-119820400	Enhancers	Fetal Muscle Trunk	muscle
23	chr4:119819800-119820400	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links