Variant report

Variant	rs72953090
Chromosome Location	chr4:153087041-153087042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17028462	1.00[AMR][1000 genomes]
rs4466023	0.87[AFR][1000 genomes]
rs55943229	1.00[AMR][1000 genomes]
rs57531394	0.89[AFR][1000 genomes]
rs58239760	1.00[AMR][1000 genomes]
rs61484042	1.00[AMR][1000 genomes]
rs72953008	1.00[AMR][1000 genomes]
rs72953014	1.00[AMR][1000 genomes]
rs72953021	1.00[AMR][1000 genomes]
rs72953091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953095	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73865606	1.00[AMR][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	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv880774	chr4:153035743-153121818	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153078000-153090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:153083800-153089000	Weak transcription	Right Atrium	heart
3	chr4:153085000-153087600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:153085200-153087800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:153085400-153087200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:153085600-153087200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:153085600-153087400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:153085600-153087800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:153085800-153087400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:153085800-153087400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:153085800-153087600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:153086000-153087400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:153086000-153090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:153086000-153094400	Weak transcription	Aorta	Aorta
15	chr4:153086600-153087600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr4:153086600-153090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:153086600-153090600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:153086800-153090400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:153087000-153087200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:153087000-153088000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:153087000-153090200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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