Variant report

Variant	rs4916707
Chromosome Location	chr5:90518222-90518223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:90517566-90518301	A549	lung:	n/a	n/a
2	TCF12	chr5:90517538-90518312	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90516379..90518427-chr5:90685377..90687540,2	MCF-7	breast:
2	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
3	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
4	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:
5	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:

No data

No data

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2048454	0.81[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs4916706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916708	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs4916853	0.85[CHB][hapmap]
rs4916857	0.85[CHB][hapmap]
rs6865066	0.85[CHB][hapmap]
rs6865269	0.85[CHB][hapmap]
rs7341005	0.91[CEU][hapmap];0.85[GIH][hapmap]
rs7704529	0.85[CHB][hapmap]
rs7705128	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712260	0.81[CEU][hapmap]
rs7731341	0.93[ASW][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs7732832	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv508369	chr5:90487017-90518540	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90515200-90519200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:90515200-90519800	Enhancers	Placenta	Placenta
3	chr5:90515600-90519600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:90515600-90524200	Weak transcription	HMEC	breast
5	chr5:90515600-90524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:90515800-90519400	Weak transcription	NHDF-Ad	bronchial
7	chr5:90515800-90519600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:90515800-90520600	Weak transcription	HSMMtube	muscle
9	chr5:90516000-90519600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:90516000-90519600	Weak transcription	HSMM	muscle
11	chr5:90516200-90519400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:90516200-90519400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:90516200-90519600	Weak transcription	Osteobl	bone
14	chr5:90516400-90519400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:90516400-90520200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:90517200-90519400	Weak transcription	Hela-S3	cervix
17	chr5:90517800-90518400	Enhancers	A549	lung
18	chr5:90518000-90518400	Enhancers	HepG2	liver
19	chr5:90518000-90520400	Weak transcription	Placenta Amnion	Placenta Amnion

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dbSNP/dbVar ID: rs12345 /nsv7879
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