Variant report

Variant	rs59323730
Chromosome Location	chr14:55439075-55439076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10129318	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10129802	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10139354	0.87[ASN][1000 genomes]
rs10140164	0.86[ASN][1000 genomes]
rs10148100	0.85[ASN][1000 genomes]
rs10150110	0.97[ASN][1000 genomes]
rs1107960	0.82[ASN][1000 genomes]
rs11158029	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11846514	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11846809	0.82[ASN][1000 genomes]
rs12147796	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17128120	0.89[ASN][1000 genomes]
rs17832269	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2183085	0.91[ASN][1000 genomes]
rs2840268	0.91[ASN][1000 genomes]
rs28446981	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28481699	0.85[ASN][1000 genomes]
rs28693954	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2878174	0.91[ASN][1000 genomes]
rs34988865	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783643	0.89[ASN][1000 genomes]
rs3783644	0.91[ASN][1000 genomes]
rs3783645	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3783646	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4325453	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4335711	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56164809	0.82[ASN][1000 genomes]
rs56206440	0.97[ASN][1000 genomes]
rs56335168	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57667631	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57922954	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58055971	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60028867	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61224609	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6572993	0.91[ASN][1000 genomes]
rs6572994	0.92[ASN][1000 genomes]
rs6572997	0.87[ASN][1000 genomes]
rs66769866	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66820631	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67395322	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67571433	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68065548	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7146285	0.92[ASN][1000 genomes]
rs7151670	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7152033	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7153937	0.91[ASN][1000 genomes]
rs7157085	0.97[ASN][1000 genomes]
rs7159232	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7159933	0.96[ASN][1000 genomes]
rs72715573	0.97[ASN][1000 genomes]
rs8004402	0.82[ASN][1000 genomes]
rs8005471	0.89[ASN][1000 genomes]
rs8006977	0.87[ASN][1000 genomes]
rs8008150	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8009997	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011446	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8012152	0.92[ASN][1000 genomes]
rs8013521	0.92[ASN][1000 genomes]
rs8015172	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8018800	0.97[ASN][1000 genomes]
rs8019220	0.97[ASN][1000 genomes]
rs8019390	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8021303	0.92[ASN][1000 genomes]
rs8021370	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8022049	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285583	0.92[ASN][1000 genomes]
rs9323275	0.90[ASN][1000 genomes]
rs943914	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9805952	0.95[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55403000-55449000	Weak transcription	Gastric	stomach
3	chr14:55403200-55442600	Weak transcription	NHEK	skin
4	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
5	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
7	chr14:55412400-55453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:55415200-55450000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:55415400-55443000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:55416000-55442600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:55419400-55442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:55419400-55443000	Weak transcription	NH-A	brain
14	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:55420000-55471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
17	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
18	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
19	chr14:55424000-55443000	Weak transcription	NHLF	lung
20	chr14:55424200-55476800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:55424800-55442800	Weak transcription	Osteobl	bone
22	chr14:55427200-55477400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:55428000-55441400	Weak transcription	Fetal Intestine Small	intestine
24	chr14:55428400-55440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:55428400-55446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:55428400-55457800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:55428400-55463000	Weak transcription	Esophagus	oesophagus
28	chr14:55428400-55471200	Weak transcription	Brain Germinal Matrix	brain
29	chr14:55428400-55471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:55429000-55449000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:55429400-55442400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:55429400-55442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:55429400-55442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:55429400-55442800	Weak transcription	HSMM	muscle
36	chr14:55429400-55457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:55429600-55442600	Weak transcription	HUVEC	blood vessel
38	chr14:55429600-55442800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:55429600-55443000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:55429600-55452000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:55429600-55479000	Weak transcription	Fetal Brain Female	brain
42	chr14:55429800-55441200	Weak transcription	Fetal Intestine Large	intestine
43	chr14:55429800-55453800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr14:55429800-55466600	Weak transcription	Primary T cells from cord blood	blood
45	chr14:55430400-55484000	Weak transcription	Lung	lung
46	chr14:55430600-55449000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:55431000-55446800	Weak transcription	Fetal Lung	lung
48	chr14:55432000-55442800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:55432000-55446800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:55432000-55453200	Weak transcription	K562	blood

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