Variant report

Variant	rs4073416
Chromosome Location	chr14:66259394-66259395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11845834	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11848443	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848444	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848463	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11850120	0.96[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28459012	0.80[EUR][1000 genomes]
rs28616692	0.80[EUR][1000 genomes]
rs3892139	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4073415	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs4131095	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4143898	0.81[CEU][hapmap]
rs4439682	0.81[ASN][1000 genomes]
rs55845504	0.83[AMR][1000 genomes]
rs56922569	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59636756	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7156078	0.80[EUR][1000 genomes]
rs968540	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	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
8	nsv1052389	chr14:66255781-66321562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv456328	chr14:66259394-66287974	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv564952	chr14:66259394-66287974	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4073416	FUT8	cis	cerebellum	SCAN
rs4073416	PLEKHH1	cis	cerebellum	SCAN
rs4073416	SYT16	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66256600-66260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:66257200-66259400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr14:66258000-66259400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:66258200-66259400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:66258200-66259600	Enhancers	HMEC	breast
8	chr14:66258200-66259600	Enhancers	HSMM	muscle
9	chr14:66258200-66259600	Enhancers	Osteobl	bone
10	chr14:66258400-66259400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:66258400-66259400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:66258400-66259400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:66258400-66259400	Enhancers	NHDF-Ad	bronchial
14	chr14:66258400-66259600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:66258600-66259400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:66258600-66259400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:66258600-66259400	Flanking Active TSS	NH-A	brain
18	chr14:66258600-66259400	Enhancers	NHEK	skin
19	chr14:66258600-66259800	Weak transcription	Spleen	Spleen
20	chr14:66258600-66260200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:66258600-66265600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:66258800-66259400	Enhancers	NHLF	lung
23	chr14:66258800-66268800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:66259000-66259400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:66259000-66259400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr14:66259000-66261200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:66259000-66261400	Weak transcription	Right Atrium	heart

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