Variant report

Variant	rs4943018
Chromosome Location	chr13:52286992-52286993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17075902	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803201	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075628	0.89[ASN][1000 genomes]
rs4625625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941710	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7328589	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7328695	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7333623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7986066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563065	0.88[ASN][1000 genomes]
rs9563066	0.89[ASN][1000 genomes]
rs9563067	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568644	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9568647	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568649	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568658	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52247600-52300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:52247600-52300200	Weak transcription	Fetal Lung	lung
3	chr13:52249400-52307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:52254600-52293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:52254600-52301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:52263400-52295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:52264000-52300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:52270400-52293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:52270800-52301600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:52271200-52301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:52272200-52288800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:52272400-52287600	Weak transcription	NHDF-Ad	bronchial
13	chr13:52272400-52288800	Weak transcription	NHLF	lung
14	chr13:52273400-52291800	Weak transcription	Brain Anterior Caudate	brain
15	chr13:52273600-52291400	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:52273600-52293000	Weak transcription	Right Atrium	heart
17	chr13:52273600-52293200	Weak transcription	Left Ventricle	heart
18	chr13:52273600-52295200	Weak transcription	Right Ventricle	heart
19	chr13:52273600-52295600	Weak transcription	Pancreas	Pancrea
20	chr13:52273600-52295800	Weak transcription	Spleen	Spleen
21	chr13:52274000-52295600	Weak transcription	Ovary	ovary
22	chr13:52274000-52300400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:52276400-52295400	Weak transcription	Adipose Nuclei	Adipose
24	chr13:52276600-52301800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:52276800-52288800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr13:52277000-52300000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:52278000-52287200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:52278400-52299600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:52278800-52301800	Weak transcription	Thymus	Thymus
30	chr13:52278800-52302200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr13:52279200-52288000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr13:52279400-52287600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:52279400-52291800	Weak transcription	Aorta	Aorta
34	chr13:52279400-52295200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:52279400-52300200	Weak transcription	Liver	Liver
36	chr13:52279400-52301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:52279400-52301800	Weak transcription	Gastric	stomach
38	chr13:52279400-52303000	Weak transcription	Lung	lung
39	chr13:52279600-52287400	Weak transcription	NHEK	skin
40	chr13:52279600-52287600	Weak transcription	HMEC	breast
41	chr13:52279600-52288600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:52279600-52288800	Weak transcription	NH-A	brain
43	chr13:52279600-52293000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr13:52279600-52293200	Weak transcription	Primary T cells from cord blood	blood
45	chr13:52279600-52295000	Weak transcription	HSMMtube	muscle
46	chr13:52279600-52299400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:52279600-52300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr13:52279600-52301800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr13:52279600-52301800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr13:52279600-52304000	Weak transcription	Esophagus	oesophagus

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