Variant report

Variant	rs28695950
Chromosome Location	chr14:24831906-24831907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:24831695-24831912	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24828734..24832916-chr14:24833862..24837330,5	MCF-7	breast:
2	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
3	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
4	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
5	chr14:24831016..24832826-chr14:24833651..24835962,2	MCF-7	breast:
6	chr14:24831849..24834970-chr14:24835074..24838209,3	K562	blood:
7	chr14:24827489..24831979-chr14:24833731..24837565,5	K562	blood:

No data

No data

No data

Variant related genes	Relation type
NFATC4	TF binding region
ENSG00000129467	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10129435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10130279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139343	0.87[AFR][1000 genomes]
rs10141054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050181	0.94[ASN][1000 genomes]
rs12050389	0.86[ASN][1000 genomes]
rs12433338	0.86[ASN][1000 genomes]
rs12881276	0.81[ASN][1000 genomes]
rs13379236	0.83[AFR][1000 genomes]
rs2332325	0.85[ASN][1000 genomes]
rs28393208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28457795	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28575809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637873	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8014112	0.81[ASN][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24829800-24832200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:24829800-24832400	Enhancers	NHDF-Ad	bronchial
3	chr14:24830400-24832400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:24830600-24832400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:24831200-24832200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:24831200-24832200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:24831400-24832200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:24831400-24832800	Enhancers	Osteobl	bone
9	chr14:24831400-24834200	Weak transcription	Placenta	Placenta
10	chr14:24831400-24834400	Weak transcription	HSMMtube	muscle
11	chr14:24831400-24835000	Weak transcription	Esophagus	oesophagus
12	chr14:24831600-24834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:24831600-24834200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:24831600-24834200	Weak transcription	NHLF	lung
15	chr14:24831800-24832000	Enhancers	HSMM	muscle
16	chr14:24831800-24833400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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