Variant report

Variant	rs2984127
Chromosome Location	chr6:74097134-74097135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74095378..74098984-chr6:74227536..74229883,3	K562	blood:
2	chr6:74096906..74100537-chr6:74170433..74175605,6	K562	blood:
3	chr6:74065029..74067593-chr6:74094453..74097420,2	MCF-7	breast:
4	chr6:74097031..74100005-chr6:74170446..74175605,4	K562	blood:
5	chr6:74097102..74099015-chr6:74101639..74104853,3	K562	blood:
6	chr6:74061513..74063742-chr6:74096070..74099036,2	K562	blood:
7	chr6:74096785..74099328-chr6:74132836..74134473,2	K562	blood:
8	chr6:74094308..74097512-chr6:74097531..74100716,3	K562	blood:
9	chr6:74083446..74085869-chr6:74096172..74099049,2	K562	blood:
10	6:74000304-74012200..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo

No data

No data

No data

Variant related genes	Relation type
ENSG00000135297	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12182385	0.90[EUR][1000 genomes]
rs17812683	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs526416	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574436	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62440587	0.90[EUR][1000 genomes]
rs6903886	0.95[EUR][1000 genomes]
rs6937668	0.88[EUR][1000 genomes]
rs9343041	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9446892	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74087800-74097600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:74096600-74097600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:74097000-74097600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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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

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