Variant report

Variant	rs57388448
Chromosome Location	chr5:1960877-1960878
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:4)

rs_ID	r²[population]
rs11748597	0.83[ASN][1000 genomes]
rs4975717	0.88[ASN][1000 genomes]
rs56075953	0.99[ASN][1000 genomes]
rs901504	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv508344	chr5:1905222-1976860	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv881562	chr5:1907974-1976187	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3417599	chr5:1959252-1962550	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3382780	chr5:1959452-1962650	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 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	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:1950600-1963800	Weak transcription	Right Ventricle	heart
3	chr5:1951800-1961400	Weak transcription	HMEC	breast
4	chr5:1952200-1962000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:1952200-1962200	Weak transcription	NHEK	skin
6	chr5:1954000-1962600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:1955000-1965800	Weak transcription	Adipose Nuclei	Adipose
8	chr5:1958200-1962000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:1958200-1966800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:1960000-1961200	ZNF genes & repeats	Esophagus	oesophagus
11	chr5:1960400-1961400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:1960600-1961200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr5:1960600-1961200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:1960600-1961200	Genic enhancers	Gastric	stomach
15	chr5:1960600-1961200	Enhancers	Spleen	Spleen
16	chr5:1960600-1961400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:1960600-1961400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:1960600-1961400	ZNF genes & repeats	Fetal Heart	heart
19	chr5:1960600-1961400	ZNF genes & repeats	Fetal Kidney	kidney
20	chr5:1960600-1961400	ZNF genes & repeats	Pancreas	Pancrea
21	chr5:1960600-1961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:1960800-1961200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:1960800-1962000	Weak transcription	Ovary	ovary

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