Variant report

Variant	rs72714350
Chromosome Location	chr14:56609383-56609384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56608539..56610800-chr14:56613943..56615477,2	MCF-7	breast:
2	chr14:56602302..56604892-chr14:56607961..56609487,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10483657	0.84[ASN][1000 genomes]
rs171410	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17832621	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242397	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242399	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242401	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242403	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242404	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242405	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242408	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242409	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242411	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242412	0.98[ASN][1000 genomes]
rs242415	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242416	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783655	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783673	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783677	0.84[ASN][1000 genomes]
rs3783682	0.82[ASN][1000 genomes]
rs3825619	0.84[ASN][1000 genomes]
rs55724547	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55764336	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56280775	0.82[ASN][1000 genomes]
rs56387985	0.82[ASN][1000 genomes]
rs57405940	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58069847	0.84[ASN][1000 genomes]
rs72717977	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717992	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56593200-56612800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:56596600-56615000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:56597000-56611800	Weak transcription	Lung	lung
4	chr14:56599400-56614800	Weak transcription	Brain Substantia Nigra	brain
5	chr14:56599400-56615000	Weak transcription	Left Ventricle	heart
6	chr14:56600600-56615000	Weak transcription	Right Atrium	heart
7	chr14:56604000-56610400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:56604200-56614800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:56604400-56610800	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:56604800-56612000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:56604800-56612200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:56605800-56614200	Weak transcription	Primary T cells from cord blood	blood
13	chr14:56606000-56611800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:56606000-56612200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:56606000-56612200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:56606000-56613000	Weak transcription	Fetal Thymus	thymus
17	chr14:56606000-56614000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:56606000-56614800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:56606000-56615000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:56606000-56615000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:56606000-56615000	Weak transcription	Spleen	Spleen
22	chr14:56606600-56614600	Weak transcription	Fetal Kidney	kidney
23	chr14:56606800-56613000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:56606800-56615200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:56607000-56609800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:56607000-56611600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:56607000-56611600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:56607000-56611800	Weak transcription	Fetal Brain Male	brain
29	chr14:56607000-56613800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:56607400-56611600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:56607800-56610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:56607800-56613200	Enhancers	Dnd41	blood
33	chr14:56607800-56613800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:56607800-56614600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:56607800-56614800	Weak transcription	Brain Germinal Matrix	brain
36	chr14:56608200-56610400	Weak transcription	Psoas Muscle	Psoas
37	chr14:56608200-56611800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:56608200-56613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:56608800-56611600	Weak transcription	Stomach Mucosa	stomach
40	chr14:56609000-56612400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:56609200-56609800	Weak transcription	Small Intestine	intestine
42	chr14:56609200-56610600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:56609200-56611800	Weak transcription	Ovary	ovary
44	chr14:56609200-56611800	Weak transcription	Pancreas	Pancrea
45	chr14:56609200-56611800	Weak transcription	Thymus	Thymus
46	chr14:56609200-56612800	Weak transcription	Fetal Brain Female	brain
47	chr14:56609200-56614600	Weak transcription	Gastric	stomach

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