Variant report

Variant	rs56404404
Chromosome Location	chr14:39631569-39631570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10483540	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108815	0.83[EUR][1000 genomes]
rs45469295	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45469795	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45540035	0.89[EUR][1000 genomes]
rs55706043	1.00[ASN][1000 genomes]
rs55790340	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55880223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918207	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55981737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55987939	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55997577	0.89[EUR][1000 genomes]
rs56032918	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063785	0.80[EUR][1000 genomes]
rs56074634	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56087094	0.80[EUR][1000 genomes]
rs56103446	0.89[EUR][1000 genomes]
rs56125789	0.89[EUR][1000 genomes]
rs56136756	0.80[EUR][1000 genomes]
rs56182546	1.00[ASN][1000 genomes]
rs56225465	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225696	0.96[EUR][1000 genomes]
rs56237815	0.80[EUR][1000 genomes]
rs56276842	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282196	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56328886	0.80[EUR][1000 genomes]
rs56333870	0.87[EUR][1000 genomes]
rs56334607	0.80[EUR][1000 genomes]
rs56335002	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56341545	0.80[EUR][1000 genomes]
rs57248532	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59418195	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6571907	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67808375	0.91[EUR][1000 genomes]
rs67970726	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147914	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148908	0.80[EUR][1000 genomes]
rs7150638	0.83[EUR][1000 genomes]
rs7161065	0.87[EUR][1000 genomes]
rs72671316	0.80[EUR][1000 genomes]
rs72671333	0.80[EUR][1000 genomes]
rs72671344	0.80[EUR][1000 genomes]
rs72671349	0.80[EUR][1000 genomes]
rs72671353	0.80[EUR][1000 genomes]
rs72671360	0.85[EUR][1000 genomes]
rs72671362	0.85[EUR][1000 genomes]
rs72671367	0.85[EUR][1000 genomes]
rs72671372	0.89[EUR][1000 genomes]
rs72671379	0.89[EUR][1000 genomes]
rs72671382	0.89[EUR][1000 genomes]
rs72671387	0.89[EUR][1000 genomes]
rs72671398	0.89[EUR][1000 genomes]
rs72671400	0.89[EUR][1000 genomes]
rs72673314	0.89[EUR][1000 genomes]
rs72673315	0.91[EUR][1000 genomes]
rs72673316	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673317	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673318	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72673328	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673329	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673339	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673340	0.93[EUR][1000 genomes]
rs72673346	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673357	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673359	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[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	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1806619	chr14:39630053-39633213	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
2	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
4	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39611400-39638000	Weak transcription	A549	lung
9	chr14:39612000-39631600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:39617600-39632400	Strong transcription	Fetal Thymus	thymus
24	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
25	chr14:39617800-39637400	Weak transcription	K562	blood
26	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
29	chr14:39621000-39632000	Strong transcription	Primary B cells from cord blood	blood
30	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:39622000-39633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:39625000-39636000	Strong transcription	Placenta	Placenta
34	chr14:39625600-39631600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:39626200-39632200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:39626400-39634200	Strong transcription	Fetal Lung	lung
37	chr14:39626800-39637600	Weak transcription	Fetal Heart	heart
38	chr14:39626800-39637800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:39627000-39631800	Weak transcription	NH-A	brain
40	chr14:39627000-39635400	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:39627000-39637200	Weak transcription	Brain Angular Gyrus	brain
42	chr14:39627000-39637400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:39627000-39637600	Weak transcription	HSMMtube	muscle
44	chr14:39627000-39637800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:39627000-39637800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:39627000-39638800	Weak transcription	Gastric	stomach
47	chr14:39627200-39634600	Weak transcription	Fetal Kidney	kidney
48	chr14:39627200-39638600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:39628200-39633800	Strong transcription	HepG2	liver
50	chr14:39628200-39637600	Weak transcription	NHDF-Ad	bronchial

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