Variant report

Variant	rs3986780
Chromosome Location	chr14:65794763-65794764
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10144720	0.87[CEU][hapmap]
rs1038239	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158584	0.85[CEU][hapmap]
rs11846705	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1256537	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1256541	0.88[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1256542	0.85[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1256544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17180994	0.86[EUR][1000 genomes]
rs2101084	0.85[CEU][hapmap]
rs2411915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899175	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7144530	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs8015222	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs8020305	0.87[CEU][hapmap]
rs8021946	0.86[EUR][1000 genomes]
rs8023016	0.86[EUR][1000 genomes]
rs899960	0.88[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65788400-65800600	Weak transcription	Thymus	Thymus
2	chr14:65788800-65796000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:65788800-65796400	Weak transcription	Primary B cells from cord blood	blood
4	chr14:65788800-65796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:65789000-65796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:65789000-65796800	Weak transcription	HMEC	breast
7	chr14:65789000-65800600	Weak transcription	Primary T cells from cord blood	blood
8	chr14:65790800-65799400	Weak transcription	Stomach Mucosa	stomach
9	chr14:65791000-65795400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:65794600-65799200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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