Variant report

Variant	rs72720006
Chromosome Location	chr14:56715484-56715485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56387608	1.00[ASN][1000 genomes]
rs72720096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:56693200-56724400	Weak transcription	Gastric	stomach
3	chr14:56694000-56723000	Weak transcription	Lung	lung
4	chr14:56696000-56715600	Weak transcription	Fetal Thymus	thymus
5	chr14:56702600-56717600	Weak transcription	Ovary	ovary
6	chr14:56704000-56716800	Weak transcription	Fetal Intestine Small	intestine
7	chr14:56704400-56716600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:56704600-56716000	Weak transcription	Primary T cells from cord blood	blood
9	chr14:56707200-56717400	Weak transcription	Pancreas	Pancrea
10	chr14:56707600-56716200	Weak transcription	Primary B cells from cord blood	blood
11	chr14:56710600-56717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:56711200-56715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:56711200-56720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:56711200-56724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:56711400-56716200	Weak transcription	Fetal Stomach	stomach
16	chr14:56711400-56716400	Weak transcription	Fetal Intestine Large	intestine
17	chr14:56711400-56717000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:56711400-56718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:56711600-56716200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:56711600-56716600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:56711600-56724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:56714000-56716000	Enhancers	Fetal Brain Male	brain
23	chr14:56714800-56715800	Enhancers	Fetal Brain Female	brain
24	chr14:56714800-56719400	Strong transcription	Dnd41	blood
25	chr14:56715200-56715600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr14:56715200-56715600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:56715200-56717800	Strong transcription	Thymus	Thymus
28	chr14:56715400-56715600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:56715400-56716200	Weak transcription	Aorta	Aorta
30	chr14:56715400-56716600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:56715400-56717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:56715400-56717800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:56715400-56718600	Strong transcription	Monocytes-CD14+_RO01746	blood

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