Variant report

Variant	rs72716418
Chromosome Location	chr14:66121045-66121046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10143206	0.87[ASN][1000 genomes]
rs10148529	0.83[ASN][1000 genomes]
rs10483776	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1113962	0.81[ASN][1000 genomes]
rs1121885	0.83[ASN][1000 genomes]
rs12433597	0.85[ASN][1000 genomes]
rs17753508	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2183277	0.85[ASN][1000 genomes]
rs2268959	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2300864	0.87[ASN][1000 genomes]
rs2898814	0.85[ASN][1000 genomes]
rs34640387	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34772005	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35949016	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3825639	0.85[ASN][1000 genomes]
rs60708728	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7144345	0.83[ASN][1000 genomes]
rs7144971	0.87[ASN][1000 genomes]
rs7147002	0.85[ASN][1000 genomes]
rs7158153	0.85[ASN][1000 genomes]
rs72714433	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72714436	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72714439	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72714440	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72714442	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72714447	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72714460	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72714461	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72714468	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72714478	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72714482	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72714483	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714484	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72714499	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72716407	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72716408	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72716420	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72716421	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72716430	0.90[EUR][1000 genomes]
rs9323461	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
2	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
3	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:66098000-66125000	Weak transcription	Brain Substantia Nigra	brain
5	chr14:66099000-66135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:66099200-66135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:66105000-66125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:66105000-66143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:66105000-66149600	Weak transcription	Fetal Thymus	thymus
12	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:66105200-66135600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:66105200-66136000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:66107000-66126400	Weak transcription	Stomach Mucosa	stomach
16	chr14:66112200-66122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:66112600-66122400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:66113400-66141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:66114000-66122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:66114000-66124200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:66114000-66135600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:66114600-66123200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:66116200-66135000	Weak transcription	Dnd41	blood
24	chr14:66119400-66122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:66119800-66122600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:66120000-66121400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:66120200-66135000	Weak transcription	Primary B cells from cord blood	blood
28	chr14:66120800-66121400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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