Variant report

Variant	rs72714280
Chromosome Location	chr14:63949500-63949501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63933605..63937340-chr14:63947351..63949899,3	MCF-7	breast:
2	chr14:63941924..63943433-chr14:63948646..63951523,2	MCF-7	breast:
3	chr14:63947265..63950019-chr14:63956617..63959614,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1012145	0.96[EUR][1000 genomes]
rs10129170	0.94[EUR][1000 genomes]
rs10130074	0.96[EUR][1000 genomes]
rs10132996	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10133014	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10137243	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10137259	0.94[EUR][1000 genomes]
rs10137279	0.95[EUR][1000 genomes]
rs10138187	0.96[EUR][1000 genomes]
rs10138274	0.96[EUR][1000 genomes]
rs10138372	0.95[EUR][1000 genomes]
rs10138832	0.94[EUR][1000 genomes]
rs10139028	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10139725	0.96[EUR][1000 genomes]
rs10140710	0.94[EUR][1000 genomes]
rs10140718	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10141179	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10144700	0.96[EUR][1000 genomes]
rs10145422	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10146848	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10148185	0.93[EUR][1000 genomes]
rs10148960	0.85[ASN][1000 genomes]
rs10149549	0.96[EUR][1000 genomes]
rs10152067	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1033742	0.96[EUR][1000 genomes]
rs1033744	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1033745	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1033747	0.88[EUR][1000 genomes]
rs10483773	0.96[EUR][1000 genomes]
rs11158492	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11158493	0.88[EUR][1000 genomes]
rs11850626	0.91[EUR][1000 genomes]
rs11850808	0.85[ASN][1000 genomes]
rs12323479	0.96[EUR][1000 genomes]
rs12433708	0.80[EUR][1000 genomes]
rs12434321	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1475040	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17093492	0.96[EUR][1000 genomes]
rs17101205	0.96[EUR][1000 genomes]
rs17101207	0.96[EUR][1000 genomes]
rs17101238	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17101239	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17101242	0.87[EUR][1000 genomes]
rs17225252	0.96[EUR][1000 genomes]
rs17225266	0.96[EUR][1000 genomes]
rs17825105	0.94[EUR][1000 genomes]
rs1951212	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1951213	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1957045	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2016629	0.95[EUR][1000 genomes]
rs2064953	0.87[EUR][1000 genomes]
rs2064954	0.87[EUR][1000 genomes]
rs2064955	0.84[ASN][1000 genomes]
rs2180876	0.87[EUR][1000 genomes]
rs28372244	0.97[EUR][1000 genomes]
rs28394515	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28496722	0.94[EUR][1000 genomes]
rs28522688	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28560307	0.96[EUR][1000 genomes]
rs28579385	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28592209	0.96[EUR][1000 genomes]
rs28620591	0.96[EUR][1000 genomes]
rs28639496	0.85[ASN][1000 genomes]
rs28683743	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28696283	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28711489	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28758626	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3783741	0.94[EUR][1000 genomes]
rs3783743	0.96[EUR][1000 genomes]
rs4391977	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4899113	0.96[EUR][1000 genomes]
rs4902226	0.96[EUR][1000 genomes]
rs4902227	0.96[EUR][1000 genomes]
rs4902229	0.87[EUR][1000 genomes]
rs4902230	0.85[ASN][1000 genomes]
rs4902231	0.85[ASN][1000 genomes]
rs4902232	0.84[EUR][1000 genomes]
rs55859128	0.86[EUR][1000 genomes]
rs57670001	0.85[ASN][1000 genomes]
rs57760311	0.91[EUR][1000 genomes]
rs60644154	0.96[EUR][1000 genomes]
rs61627079	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6573517	0.80[EUR][1000 genomes]
rs6573518	0.97[EUR][1000 genomes]
rs6573519	0.96[EUR][1000 genomes]
rs6573520	0.96[EUR][1000 genomes]
rs67442217	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7140763	0.96[EUR][1000 genomes]
rs7143816	0.97[EUR][1000 genomes]
rs7144120	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7146069	0.89[EUR][1000 genomes]
rs7147222	0.97[EUR][1000 genomes]
rs7152839	0.96[EUR][1000 genomes]
rs7153764	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7154559	0.94[EUR][1000 genomes]
rs7161634	0.96[EUR][1000 genomes]
rs72714239	0.97[EUR][1000 genomes]
rs72714243	0.80[EUR][1000 genomes]
rs72714258	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714283	0.95[EUR][1000 genomes]
rs8003115	0.95[EUR][1000 genomes]
rs8003144	0.97[EUR][1000 genomes]
rs8003246	0.96[EUR][1000 genomes]
rs8003647	0.97[EUR][1000 genomes]
rs8003956	0.97[EUR][1000 genomes]
rs8004170	0.96[EUR][1000 genomes]
rs8006981	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8007996	0.94[EUR][1000 genomes]
rs8008684	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8011488	0.87[ASN][1000 genomes]
rs8012085	0.85[ASN][1000 genomes]
rs8014486	0.94[EUR][1000 genomes]
rs8016306	0.94[EUR][1000 genomes]
rs8017184	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8018107	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8018128	0.95[EUR][1000 genomes]
rs8018307	0.97[EUR][1000 genomes]
rs8018721	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8022113	0.81[ASN][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
5	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
6	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:63938800-63949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:63938800-63958800	Weak transcription	Osteobl	bone
9	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:63939600-63950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:63939600-63950600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:63939600-63951200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:63939800-63950200	Weak transcription	Gastric	stomach
14	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
15	chr14:63940800-63950800	Weak transcription	NHEK	skin
16	chr14:63940800-63959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:63941000-63953400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:63941000-63953400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:63941200-63950200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:63941200-63959200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:63941200-63959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:63941800-63959600	Weak transcription	Esophagus	oesophagus
23	chr14:63941800-63959600	Weak transcription	Pancreas	Pancrea
24	chr14:63942000-63950200	Weak transcription	Aorta	Aorta
25	chr14:63942000-63950800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:63942200-63950000	Weak transcription	Left Ventricle	heart
27	chr14:63942200-63950000	Weak transcription	Right Ventricle	heart
28	chr14:63943000-63950000	Weak transcription	Fetal Heart	heart
29	chr14:63944200-63954600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:63944800-63949800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:63945000-63950000	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:63945000-63954200	Weak transcription	Primary B cells from cord blood	blood
33	chr14:63945600-63950800	Weak transcription	Primary T cells from cord blood	blood
34	chr14:63945600-63960000	Weak transcription	Fetal Thymus	thymus
35	chr14:63945800-63950200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:63945800-63951000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:63945800-63953200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:63945800-63954800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:63946200-63950200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:63946200-63950200	Weak transcription	Lung	lung
41	chr14:63946200-63950600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:63946200-63954400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:63946200-63966400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
45	chr14:63946400-63950200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:63946400-63950800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:63946400-63951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:63946600-63950800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:63946600-63950800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:63946600-63951400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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