Variant report

Variant	rs3942348
Chromosome Location	chr4:148418555-148418556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10305880	0.83[AFR][1000 genomes]
rs10305889	1.00[AMR][1000 genomes]
rs11946376	1.00[AMR][1000 genomes]
rs17023371	0.83[AFR][1000 genomes]
rs17023373	0.83[AFR][1000 genomes]
rs56787274	0.83[AFR][1000 genomes]
rs60509871	1.00[AMR][1000 genomes]
rs72959554	0.83[AFR][1000 genomes]
rs72959560	0.83[AFR][1000 genomes]
rs72959562	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148404200-148418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:148404200-148419000	Weak transcription	HMEC	breast
3	chr4:148404600-148419000	Weak transcription	NHLF	lung
4	chr4:148414200-148419400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:148414200-148419400	Weak transcription	HSMMtube	muscle
6	chr4:148414200-148430400	Weak transcription	Aorta	Aorta
7	chr4:148414400-148419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:148414400-148419000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:148414400-148419000	Weak transcription	Osteobl	bone
10	chr4:148414400-148419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
12	chr4:148414600-148419000	Weak transcription	NH-A	brain
13	chr4:148414600-148419200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:148414600-148419400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:148414800-148419000	Weak transcription	NHDF-Ad	bronchial
16	chr4:148416400-148434000	Weak transcription	Left Ventricle	heart
17	chr4:148416800-148430400	Weak transcription	Ovary	ovary
18	chr4:148417000-148419200	Weak transcription	Fetal Heart	heart
19	chr4:148417000-148419400	Weak transcription	Fetal Lung	lung
20	chr4:148417000-148433200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:148418000-148418800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:148418000-148419000	Weak transcription	NHEK	skin
23	chr4:148418000-148419200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:148418200-148422000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links