Variant report

Variant	rs621498
Chromosome Location	chr6:140230070-140230071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17754158	1.00[ASN][1000 genomes]
rs17754188	1.00[ASN][1000 genomes]
rs17754253	1.00[ASN][1000 genomes]
rs35655350	1.00[AFR][1000 genomes]
rs41488649	1.00[ASN][1000 genomes]
rs4269390	1.00[ASN][1000 genomes]
rs4551184	1.00[ASN][1000 genomes]
rs56338776	1.00[ASN][1000 genomes]
rs57240852	1.00[ASN][1000 genomes]
rs57871203	1.00[ASN][1000 genomes]
rs61009323	1.00[ASN][1000 genomes]
rs61079096	1.00[ASN][1000 genomes]
rs61227659	1.00[ASN][1000 genomes]
rs6906113	1.00[ASN][1000 genomes]
rs73557403	1.00[ASN][1000 genomes]
rs73557405	1.00[ASN][1000 genomes]
rs73557408	1.00[ASN][1000 genomes]
rs73557411	1.00[ASN][1000 genomes]
rs73557413	1.00[ASN][1000 genomes]
rs73558051	1.00[ASN][1000 genomes]
rs73570339	1.00[ASN][1000 genomes]
rs73574327	1.00[ASN][1000 genomes]
rs73574340	1.00[ASN][1000 genomes]
rs73574342	1.00[ASN][1000 genomes]
rs73775652	1.00[ASN][1000 genomes]
rs73775687	1.00[ASN][1000 genomes]
rs73775688	1.00[ASN][1000 genomes]
rs73775700	1.00[ASN][1000 genomes]
rs73778029	1.00[ASN][1000 genomes]
rs73778039	1.00[ASN][1000 genomes]
rs73778040	1.00[ASN][1000 genomes]
rs7743795	1.00[ASN][1000 genomes]
rs946283	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs621498	CITED2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140227000-140247600	Weak transcription	Small Intestine	intestine
2	chr6:140227400-140238600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:140227600-140239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:140228000-140239200	Weak transcription	Monocytes-CD14+_RO01746	blood

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