Variant report

Variant	rs4968993
Chromosome Location	chr17:67050387-67050388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10512523	0.87[EUR][1000 genomes]
rs1076401	0.97[ASN][1000 genomes]
rs11657541	0.96[ASN][1000 genomes]
rs11659114	0.99[ASN][1000 genomes]
rs11868097	0.80[EUR][1000 genomes]
rs11871944	0.98[ASN][1000 genomes]
rs12325889	0.97[EUR][1000 genomes]
rs2079808	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62082714	0.98[ASN][1000 genomes]
rs71357712	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7217543	0.99[ASN][1000 genomes]
rs8066691	0.84[EUR][1000 genomes]
rs8067578	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8070285	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9789039	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9902602	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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	chr17:67039800-67051800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr17:67040800-67055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr17:67044200-67053400	Weak transcription	Left Ventricle	heart
5	chr17:67044400-67051000	Weak transcription	Liver	Liver
6	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
7	chr17:67046200-67057000	Weak transcription	HUVEC	blood vessel
8	chr17:67046600-67052800	Weak transcription	Ovary	ovary
9	chr17:67047600-67055000	Weak transcription	Adipose Nuclei	Adipose
10	chr17:67047800-67055400	Weak transcription	Osteobl	bone
11	chr17:67048400-67057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:67049200-67051400	Weak transcription	NHDF-Ad	bronchial
13	chr17:67049400-67055200	Weak transcription	Right Atrium	heart
14	chr17:67050000-67050800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:67050200-67055000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

Quick Search:

Input of quick search could be:

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

what's new

Quick links