Variant report

Variant	rs3783643
Chromosome Location	chr14:55428641-55428642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10129318	0.88[ASN][1000 genomes]
rs10129802	0.86[ASN][1000 genomes]
rs10136972	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10137071	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10139354	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140164	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10148100	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10150110	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1107960	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158029	0.89[ASN][1000 genomes]
rs11628304	0.86[AMR][1000 genomes]
rs11846514	0.91[ASN][1000 genomes]
rs11846809	0.86[ASN][1000 genomes]
rs12147796	0.89[ASN][1000 genomes]
rs17128120	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17832269	0.96[ASN][1000 genomes]
rs2149482	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2183085	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2840268	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28446981	0.82[ASN][1000 genomes]
rs28481699	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28693954	0.82[ASN][1000 genomes]
rs2878174	0.86[ASN][1000 genomes]
rs34988865	0.83[ASN][1000 genomes]
rs3759665	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3783644	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783645	0.90[ASN][1000 genomes]
rs4325453	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56164809	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56206440	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56335168	0.84[ASN][1000 genomes]
rs57667631	0.83[ASN][1000 genomes]
rs57922954	0.84[ASN][1000 genomes]
rs58055971	0.84[ASN][1000 genomes]
rs59323730	0.89[ASN][1000 genomes]
rs61224609	0.87[ASN][1000 genomes]
rs6572992	0.86[ASN][1000 genomes]
rs6572993	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6572994	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6572997	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66769866	0.91[ASN][1000 genomes]
rs66820631	0.85[ASN][1000 genomes]
rs67395322	0.81[ASN][1000 genomes]
rs67571433	0.91[ASN][1000 genomes]
rs68065548	0.84[ASN][1000 genomes]
rs7146285	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7151670	0.91[ASN][1000 genomes]
rs7152033	0.82[ASN][1000 genomes]
rs7153937	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7157085	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7159232	0.94[ASN][1000 genomes]
rs7159933	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7159953	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72715573	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8004402	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8005471	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006977	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008150	0.89[ASN][1000 genomes]
rs8009997	0.96[ASN][1000 genomes]
rs8011446	0.96[ASN][1000 genomes]
rs8012152	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013521	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015172	0.95[ASN][1000 genomes]
rs8018800	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8019220	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8019390	0.89[ASN][1000 genomes]
rs8021303	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8021370	0.82[ASN][1000 genomes]
rs8022049	0.91[ASN][1000 genomes]
rs9285583	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323275	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs943914	0.89[ASN][1000 genomes]
rs9805952	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1038242	chr14:55398559-55444839	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3378942	chr14:55412251-55440744	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55428800	Weak transcription	HSMM	muscle
3	chr14:55403000-55449000	Weak transcription	Gastric	stomach
4	chr14:55403200-55442600	Weak transcription	NHEK	skin
5	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
6	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
8	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
9	chr14:55412400-55453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:55412600-55433600	Weak transcription	HepG2	liver
11	chr14:55413600-55429400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:55414000-55433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:55414400-55429800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:55415200-55450000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:55415400-55443000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:55415600-55428800	Weak transcription	Hela-S3	cervix
17	chr14:55416000-55442600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:55417400-55428800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:55419400-55442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:55419400-55443000	Weak transcription	NH-A	brain
22	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:55420000-55471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:55420200-55431400	Weak transcription	Small Intestine	intestine
25	chr14:55420200-55435200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:55420400-55435600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:55420600-55429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:55420600-55434000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:55420600-55434600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr14:55420600-55434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:55420600-55434800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:55420600-55435000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:55420600-55435000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:55420600-55435200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:55420600-55435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:55420600-55435800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:55420600-55437000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:55420600-55438400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:55420800-55429000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:55420800-55437000	Strong transcription	Dnd41	blood
41	chr14:55421200-55431400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:55421400-55430600	Weak transcription	Ovary	ovary
43	chr14:55421600-55435200	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:55421800-55436200	Weak transcription	Spleen	Spleen
45	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
46	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
47	chr14:55422000-55432000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:55422000-55435200	Weak transcription	Right Ventricle	heart
49	chr14:55422200-55429400	Weak transcription	Brain Substantia Nigra	brain
50	chr14:55422200-55429400	Weak transcription	HMEC	breast

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