Variant report

Variant	rs12893094
Chromosome Location	chr14:65789077-65789078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11627598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11847263	0.93[ASN][1000 genomes]
rs1256540	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1269068	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12878872	0.81[AMR][1000 genomes]
rs12880725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12881755	0.85[ASN][1000 genomes]
rs12886005	0.80[AMR][1000 genomes]
rs12886168	0.80[AMR][1000 genomes]
rs1760978	0.86[EUR][1000 genomes]
rs1954052	0.80[AMR][1000 genomes]
rs28740895	0.99[ASN][1000 genomes]
rs4899174	0.80[AMR][1000 genomes]
rs4902391	0.80[AMR][1000 genomes]
rs747541	0.80[AMR][1000 genomes]
rs899959	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 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	chr14:65785600-65791000	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:65787800-65789200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:65788400-65790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65788400-65800600	Weak transcription	Thymus	Thymus
5	chr14:65788600-65790000	Weak transcription	Stomach Mucosa	stomach
6	chr14:65788800-65790800	Enhancers	GM12878-XiMat	blood
7	chr14:65788800-65796000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:65788800-65796400	Weak transcription	Primary B cells from cord blood	blood
9	chr14:65788800-65796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:65789000-65790000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:65789000-65796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:65789000-65796800	Weak transcription	HMEC	breast
13	chr14:65789000-65800600	Weak transcription	Primary T cells from cord blood	blood

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

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