Variant report

Variant	rs4305918
Chromosome Location	chr8:125969635-125969636
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125826052..125829315-chr8:125964777..125971300,8	K562	blood:
2	chr8:125968809..125971198-chr8:125975245..125977823,2	K562	blood:
3	chr8:125957863..125960286-chr8:125966886..125970018,3	K562	blood:
4	chr8:125551432..125553134-chr8:125968073..125971516,3	MCF-7	breast:
5	chr8:125968714..125970569-chr8:125986255..125988175,2	K562	blood:
6	chr8:125968439..125970169-chr8:125972216..125975033,2	K562	blood:
7	chr8:125964835..125966928-chr8:125968756..125971401,2	K562	blood:
8	chr8:125968114..125970117-chr8:125983908..125986351,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000249816	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10089670	1.00[AMR][1000 genomes]
rs10098756	1.00[AMR][1000 genomes]
rs10105404	1.00[AMR][1000 genomes]
rs10110582	1.00[AMR][1000 genomes]
rs10112396	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10956228	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998170	1.00[AMR][1000 genomes]
rs12334394	1.00[AMR][1000 genomes]
rs16900255	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16900296	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2033133	1.00[AMR][1000 genomes]
rs28431278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489728	1.00[AMR][1000 genomes]
rs28507055	1.00[AMR][1000 genomes]
rs28513909	1.00[AMR][1000 genomes]
rs73348129	1.00[AMR][1000 genomes]
rs73348132	1.00[AMR][1000 genomes]
rs7814490	1.00[AMR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125968000-125969800	Enhancers	Right Ventricle	heart
2	chr8:125968000-125971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:125968200-125970800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:125968400-125969800	Enhancers	Fetal Muscle Trunk	muscle
5	chr8:125968400-125970800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:125968600-125969800	Bivalent Enhancer	NHDF-Ad	bronchial
7	chr8:125968800-125970600	Enhancers	Primary T cells from cord blood	blood
8	chr8:125969000-125974000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:125969200-125969800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:125969200-125969800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:125969200-125970600	Weak transcription	Liver	Liver
12	chr8:125969400-125969800	Weak transcription	K562	blood
13	chr8:125969600-125969800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:125969600-125969800	Enhancers	Right Atrium	heart

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

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