Variant report

Variant	rs6689041
Chromosome Location	chr1:220054680-220054681
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220043564..220045439-chr1:220054563..220056088,2	K562	blood:
2	chr1:220049654..220055066-chr1:220079311..220085497,6	K562	blood:
3	chr1:220048650..220051363-chr1:220053198..220059066,6	K562	blood:
4	chr1:220045226..220048197-chr1:220052449..220055319,3	K562	blood:
5	chr1:220053156..220055258-chr1:220056864..220059400,3	K562	blood:
6	chr1:220051507..220054761-chr1:220100220..220102368,3	K562	blood:
7	chr1:220054185..220056883-chr1:220111054..220113259,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10399645	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10495139	1.00[EUR][1000 genomes]
rs12059389	0.82[AFR][1000 genomes]
rs12082007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093517	1.00[EUR][1000 genomes]
rs12094150	1.00[EUR][1000 genomes]
rs17006771	1.00[EUR][1000 genomes]
rs73091611	1.00[EUR][1000 genomes]
rs73091624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544241	1.00[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220045000-220057200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220050000-220055200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:220053800-220057600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:220054000-220055800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:220054000-220056600	Enhancers	Liver	Liver
6	chr1:220054200-220055600	Enhancers	Fetal Intestine Small	intestine
7	chr1:220054400-220054800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:220054400-220057200	Enhancers	HepG2	liver
9	chr1:220054600-220055800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:220054600-220056000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:220054600-220057000	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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