Variant report

Variant	rs72714470
Chromosome Location	chr14:65979173-65979174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10483778	1.00[ASN][1000 genomes]
rs10483782	1.00[ASN][1000 genomes]
rs17181339	1.00[ASN][1000 genomes]
rs17779103	1.00[ASN][1000 genomes]
rs72714420	0.90[EUR][1000 genomes]
rs72714446	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714451	1.00[ASN][1000 genomes]
rs72714491	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72714498	0.83[AMR][1000 genomes];0.98[EUR][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	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65945200-65980000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:65963600-65994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:65969800-65980800	Weak transcription	Pancreas	Pancrea
4	chr14:65969800-65994600	Weak transcription	Left Ventricle	heart
5	chr14:65970200-65985400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:65970200-65985400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:65970400-65981600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:65971400-65984200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:65973800-65980800	Weak transcription	Gastric	stomach
10	chr14:65974400-65980400	Weak transcription	Small Intestine	intestine
11	chr14:65975200-65979800	Weak transcription	Stomach Mucosa	stomach
12	chr14:65976400-65979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:65976400-65988200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:65977600-65983600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:65977600-65983600	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:65977800-65983600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:65978600-65979400	Strong transcription	Primary B cells from cord blood	blood
18	chr14:65978600-65979400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:65978800-65979200	Enhancers	Ovary	ovary
20	chr14:65978800-65979400	Strong transcription	Primary T cells from cord blood	blood
21	chr14:65979000-65979400	ZNF genes & repeats	GM12878-XiMat	blood

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