Variant report

Variant	rs60638930
Chromosome Location	chr8:121800513-121800514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12547700	0.99[ASN][1000 genomes]
rs59751654	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6985457	0.84[ASN][1000 genomes]
rs6985486	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121795800-121805200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:121798600-121819400	Weak transcription	Fetal Stomach	stomach
3	chr8:121799000-121820800	Weak transcription	Aorta	Aorta
4	chr8:121799200-121801400	Weak transcription	Liver	Liver
5	chr8:121799200-121805400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:121799200-121807600	Weak transcription	HSMM	muscle
7	chr8:121799200-121808400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:121799200-121808800	Weak transcription	Esophagus	oesophagus
9	chr8:121799200-121819600	Weak transcription	Lung	lung
10	chr8:121799400-121805200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:121799400-121810200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:121799400-121811200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:121799400-121820800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:121799800-121800600	ZNF genes & repeats	Fetal Lung	lung
15	chr8:121799800-121801000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:121800000-121801400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr8:121800000-121802800	ZNF genes & repeats	HepG2	liver

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