Variant report

Variant	rs72673339
Chromosome Location	chr14:39604080-39604081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39602771..39604896-chr14:39637781..39640211,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10483540	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108815	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs45469295	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45469795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45540035	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55706043	1.00[ASN][1000 genomes]
rs55790340	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55880223	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918207	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55981737	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55987939	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55997577	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56032918	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063785	0.85[EUR][1000 genomes]
rs56074634	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56087094	0.85[EUR][1000 genomes]
rs56103446	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56125789	0.93[EUR][1000 genomes]
rs56136756	0.85[EUR][1000 genomes]
rs56182546	1.00[ASN][1000 genomes]
rs56225465	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225696	0.91[EUR][1000 genomes]
rs56237815	0.85[EUR][1000 genomes]
rs56276842	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282196	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56328886	0.85[EUR][1000 genomes]
rs56333870	0.91[EUR][1000 genomes]
rs56334607	0.85[EUR][1000 genomes]
rs56335002	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56341545	0.85[EUR][1000 genomes]
rs56404404	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57248532	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59418195	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571907	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67808375	0.96[EUR][1000 genomes]
rs67970726	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147914	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148908	0.84[EUR][1000 genomes]
rs7150638	0.88[EUR][1000 genomes]
rs7161065	0.87[EUR][1000 genomes]
rs72669388	0.85[EUR][1000 genomes]
rs72669397	0.85[EUR][1000 genomes]
rs72669399	0.82[EUR][1000 genomes]
rs72669400	0.83[EUR][1000 genomes]
rs72671304	0.83[EUR][1000 genomes]
rs72671307	0.83[EUR][1000 genomes]
rs72671309	0.80[EUR][1000 genomes]
rs72671311	0.83[EUR][1000 genomes]
rs72671316	0.85[EUR][1000 genomes]
rs72671332	0.82[EUR][1000 genomes]
rs72671333	0.85[EUR][1000 genomes]
rs72671344	0.85[EUR][1000 genomes]
rs72671349	0.85[EUR][1000 genomes]
rs72671353	0.85[EUR][1000 genomes]
rs72671360	0.89[EUR][1000 genomes]
rs72671362	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72671367	0.89[EUR][1000 genomes]
rs72671372	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72671379	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72671382	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72671387	0.93[EUR][1000 genomes]
rs72671398	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72671400	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72673307	0.83[EUR][1000 genomes]
rs72673314	0.93[EUR][1000 genomes]
rs72673315	0.96[EUR][1000 genomes]
rs72673316	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673317	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673318	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72673328	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673329	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673340	0.93[EUR][1000 genomes]
rs72673346	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673350	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673357	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673359	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673379	1.00[ASN][1000 genomes]
rs72673381	1.00[ASN][1000 genomes]
rs72673384	1.00[ASN][1000 genomes]
rs72673387	1.00[ASN][1000 genomes]
rs72673388	1.00[ASN][1000 genomes]
rs8009457	0.85[EUR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:39586600-39610600	Strong transcription	HepG2	liver
20	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
24	chr14:39589200-39604800	Weak transcription	HSMMtube	muscle
25	chr14:39589200-39609200	Weak transcription	Gastric	stomach
26	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
29	chr14:39591800-39606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:39592600-39605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
32	chr14:39592800-39606600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:39592800-39607400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:39592800-39618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:39592800-39626600	Weak transcription	NHLF	lung
36	chr14:39593400-39604800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix
38	chr14:39594600-39606600	Weak transcription	Fetal Kidney	kidney
39	chr14:39594800-39608000	Weak transcription	Brain Angular Gyrus	brain
40	chr14:39596200-39621200	Weak transcription	Brain Substantia Nigra	brain
41	chr14:39596400-39607400	Weak transcription	Brain Anterior Caudate	brain
42	chr14:39596800-39608200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:39596800-39608600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr14:39597200-39608000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:39597400-39608200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:39597800-39607200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:39597800-39610000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:39598000-39612600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:39598200-39608000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:39598400-39604200	Weak transcription	Fetal Intestine Large	intestine

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