Variant report

Variant	rs73281806
Chromosome Location	chr14:66584346-66584347
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103275	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103293	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103296	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28378475	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28498038	1.00[AMR][1000 genomes]
rs28503972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28641944	1.00[AMR][1000 genomes]
rs57300969	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61571715	1.00[AMR][1000 genomes]
rs73280090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9989190	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66581000-66586600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:66582200-66584400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:66582800-66584400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr14:66582800-66585000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:66582800-66585000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:66582800-66585000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:66583200-66584400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:66583200-66584600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:66583200-66584600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:66583200-66584800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:66583200-66585000	Enhancers	HMEC	breast
12	chr14:66583600-66585000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:66583800-66584600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:66583800-66585000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:66583800-66585200	Enhancers	NHEK	skin
16	chr14:66583800-66586600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:66583800-66586600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:66584000-66585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:66584000-66585000	Enhancers	NHDF-Ad	bronchial
20	chr14:66584000-66585200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:66584000-66585200	Enhancers	HUVEC	blood vessel
22	chr14:66584200-66584400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:66584200-66584800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr14:66584200-66584800	Enhancers	Stomach Mucosa	stomach
25	chr14:66584200-66584800	Flanking Active TSS	A549	lung
26	chr14:66584200-66584800	Enhancers	Hela-S3	cervix
27	chr14:66584200-66584800	Enhancers	NH-A	brain
28	chr14:66584200-66585000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:66584200-66586200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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