Variant report

Variant	rs4968831
Chromosome Location	chr17:67052218-67052219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1055448	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10852783	0.84[EUR][1000 genomes]
rs11077910	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11650025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1860447	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1860448	0.89[EUR][1000 genomes]
rs2041320	0.89[EUR][1000 genomes]
rs2364312	0.85[EUR][1000 genomes]
rs2364314	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4968989	0.89[EUR][1000 genomes]
rs4968990	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4968994	0.91[EUR][1000 genomes]
rs6501957	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7212490	0.91[EUR][1000 genomes]
rs732010	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9284343	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9902504	0.98[EUR][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67040800-67055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:67044200-67053400	Weak transcription	Left Ventricle	heart
4	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
5	chr17:67046200-67057000	Weak transcription	HUVEC	blood vessel
6	chr17:67046600-67052800	Weak transcription	Ovary	ovary
7	chr17:67047600-67055000	Weak transcription	Adipose Nuclei	Adipose
8	chr17:67047800-67055400	Weak transcription	Osteobl	bone
9	chr17:67048400-67057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:67049400-67055200	Weak transcription	Right Atrium	heart
11	chr17:67050200-67055000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:67051800-67053400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:67052000-67052800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:67052000-67055200	Weak transcription	NHDF-Ad	bronchial
15	chr17:67052200-67055400	Weak transcription	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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