Variant report

Variant	rs6869989
Chromosome Location	chr5:90681980-90681981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:90681980-90682130	HCM	heart:	n/a	n/a
2	CTCF	chr5:90681880-90682030	HFF	foreskin:	n/a	n/a
3	CTCF	chr5:90681900-90682050	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr5:90681960-90682110	AG04450	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
2	chr5:90607284..90611861-chr5:90674569..90683045,11	K562	blood:
3	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:
4	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
5	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ARRDC3	TF binding region
ENSG00000251093	Chromatin interaction
ENSG00000212930	Chromatin interaction
ENSG00000271762	Chromatin interaction
ENSG00000248323	Chromatin interaction

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

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

rs_ID	r²[population]
rs6870498	1.00[AMR][1000 genomes]
rs6873831	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6879975	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6884322	1.00[AMR][1000 genomes]
rs7704369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716836	1.00[AMR][1000 genomes]
rs7717427	1.00[AMR][1000 genomes]
rs7722959	1.00[AMR][1000 genomes]
rs7736297	1.00[AMR][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90680000-90682200	Weak transcription	Left Ventricle	heart
2	chr5:90680000-90692800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:90680600-90682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:90680800-90682000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:90680800-90682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:90680800-90682000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:90680800-90682000	Weak transcription	Fetal Heart	heart
8	chr5:90680800-90686000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:90680800-90688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:90681800-90682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:90681800-90682200	Enhancers	A549	lung
12	chr5:90681800-90682200	Enhancers	K562	blood
13	chr5:90681800-90682800	Enhancers	Osteobl	bone

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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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