Variant report

Variant	rs59552478
Chromosome Location	chr1:93158165-93158166
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10465757	0.89[EUR][1000 genomes]
rs12564537	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12565227	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17131655	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41286805	0.87[EUR][1000 genomes]
rs41286813	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41296171	0.87[EUR][1000 genomes]
rs4130290	1.00[EUR][1000 genomes]
rs4442373	1.00[EUR][1000 genomes]
rs55995837	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56172716	0.84[AMR][1000 genomes]
rs56185219	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56695578	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56764656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57782462	0.84[AMR][1000 genomes]
rs59459727	0.84[AMR][1000 genomes]
rs59925050	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60842823	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61259042	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6661028	0.87[EUR][1000 genomes]
rs6681213	0.87[EUR][1000 genomes]
rs6699723	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6702975	0.87[EUR][1000 genomes]
rs72962640	0.87[EUR][1000 genomes]
rs74101152	0.87[EUR][1000 genomes]
rs74101157	0.87[EUR][1000 genomes]
rs74101310	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101322	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74101354	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101356	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101362	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101363	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74102906	0.84[AMR][1000 genomes]
rs74102948	0.84[AMR][1000 genomes]
rs74102953	0.84[AMR][1000 genomes]
rs7535486	1.00[EUR][1000 genomes]
rs7548287	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9439942	0.89[EUR][1000 genomes]
rs969698	0.86[AMR][1000 genomes];0.89[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	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:93098400-93205400	Weak transcription	NHLF	lung
3	chr1:93101600-93163600	Weak transcription	Colonic Mucosa	Colon
4	chr1:93120000-93171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:93121400-93159000	Weak transcription	NH-A	brain
6	chr1:93121400-93162200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:93121600-93166000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:93122000-93163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:93122800-93169400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:93123000-93158600	Weak transcription	HSMMtube	muscle
11	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
12	chr1:93123600-93158600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:93123600-93160200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:93123600-93160800	Weak transcription	Fetal Brain Male	brain
15	chr1:93123600-93161400	Weak transcription	Esophagus	oesophagus
16	chr1:93123600-93162200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:93123600-93162600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:93123600-93166800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:93123600-93178800	Weak transcription	Aorta	Aorta
20	chr1:93123600-93213400	Weak transcription	Gastric	stomach
21	chr1:93123800-93160400	Weak transcription	Right Ventricle	heart
22	chr1:93123800-93162400	Weak transcription	Fetal Kidney	kidney
23	chr1:93124000-93160000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:93126800-93159200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:93132000-93164600	Weak transcription	Pancreas	Pancrea
26	chr1:93136000-93164600	Weak transcription	NHDF-Ad	bronchial
27	chr1:93138000-93160600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:93138200-93159000	Weak transcription	Primary B cells from cord blood	blood
29	chr1:93138400-93161600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:93142400-93171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:93146400-93164800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:93146600-93175600	Weak transcription	NHEK	skin
33	chr1:93148000-93166800	Weak transcription	K562	blood
34	chr1:93148400-93160000	Weak transcription	HSMM	muscle
35	chr1:93148600-93158600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:93148600-93171000	Weak transcription	Hela-S3	cervix
37	chr1:93152600-93159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:93152600-93167000	Weak transcription	Primary T cells from cord blood	blood
39	chr1:93153200-93165000	Strong transcription	Liver	Liver
40	chr1:93153400-93170200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:93153800-93160800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:93153800-93161000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:93154000-93158600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:93154000-93160800	Strong transcription	Osteobl	bone
45	chr1:93154000-93161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:93154000-93167600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:93154200-93161400	Strong transcription	Placenta	Placenta
48	chr1:93154400-93159000	Weak transcription	Brain Substantia Nigra	brain
49	chr1:93154400-93160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:93154400-93161000	Strong transcription	Adipose Nuclei	Adipose

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