Variant report

Variant	rs12753351
Chromosome Location	chr1:114182594-114182595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10127930	0.89[EUR][1000 genomes]
rs10489936	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1080307	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1217384	0.82[EUR][1000 genomes]
rs12723023	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12729708	0.81[EUR][1000 genomes]
rs12730675	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12730735	0.86[EUR][1000 genomes]
rs12731010	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12731969	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12734625	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12735104	0.87[EUR][1000 genomes]
rs12739970	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12746609	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12748727	0.87[EUR][1000 genomes]
rs12752932	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12753075	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12758546	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12760457	0.87[EUR][1000 genomes]
rs13374352	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17274550	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17274620	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17274634	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17359302	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17462614	0.86[EUR][1000 genomes]
rs17508163	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17508814	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17509390	0.87[EUR][1000 genomes]
rs1885454	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2040040	0.89[EUR][1000 genomes]
rs2359173	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359174	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34042871	0.89[EUR][1000 genomes]
rs34258372	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34341173	0.88[EUR][1000 genomes]
rs34649199	0.89[EUR][1000 genomes]
rs34698891	0.86[EUR][1000 genomes]
rs34799402	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34857922	0.82[EUR][1000 genomes]
rs34877889	0.86[EUR][1000 genomes]
rs35320278	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35383900	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35836713	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36115604	0.87[EUR][1000 genomes]
rs3747998	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3748003	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3761931	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3789595	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789607	0.87[EUR][1000 genomes]
rs3789609	0.86[EUR][1000 genomes]
rs4581284	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55855422	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56257513	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61817579	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61817586	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61817617	0.89[EUR][1000 genomes]
rs61819423	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819424	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61820162	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6668829	0.89[EUR][1000 genomes]
rs6674848	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66782936	0.89[ASN][1000 genomes]
rs6703387	0.88[EUR][1000 genomes]
rs7533391	0.81[EUR][1000 genomes]
rs7533605	0.87[EUR][1000 genomes]
rs7549685	0.86[EUR][1000 genomes]
rs7555354	0.87[EUR][1000 genomes]
rs9803891	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114159000-114195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:114159200-114194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:114161600-114184600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:114161600-114184600	Weak transcription	HepG2	liver
5	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:114162200-114184600	Weak transcription	Left Ventricle	heart
7	chr1:114169200-114189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:114169400-114184600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:114170800-114184600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
11	chr1:114172400-114184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:114172400-114192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:114173000-114184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:114173000-114184600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
16	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
17	chr1:114173200-114184600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:114173200-114184600	Weak transcription	Ovary	ovary
19	chr1:114173400-114182800	Weak transcription	Fetal Lung	lung
20	chr1:114173400-114184600	Weak transcription	Primary T cells from cord blood	blood
21	chr1:114173600-114183800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:114173600-114184600	Weak transcription	Liver	Liver
23	chr1:114173600-114195000	Weak transcription	HMEC	breast
24	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:114173800-114184600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:114173800-114184600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:114173800-114196200	Weak transcription	Gastric	stomach
28	chr1:114173800-114199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:114173800-114201800	Weak transcription	Colonic Mucosa	Colon
30	chr1:114173800-114201800	Weak transcription	Lung	lung
31	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
32	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:114174000-114184600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:114174000-114184600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
36	chr1:114180400-114184600	Weak transcription	Brain Angular Gyrus	brain
37	chr1:114181000-114182800	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr1:114181200-114182600	ZNF genes & repeats	Fetal Stomach	stomach
39	chr1:114181200-114199400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:114181400-114184600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:114181800-114183400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:114181800-114199800	Weak transcription	Fetal Brain Female	brain
43	chr1:114182000-114182800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr1:114182000-114182800	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr1:114182000-114183000	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr1:114182000-114184600	Weak transcription	Brain Substantia Nigra	brain
47	chr1:114182000-114219600	Weak transcription	Fetal Kidney	kidney
48	chr1:114182200-114189200	Weak transcription	Placenta	Placenta
49	chr1:114182200-114197600	Weak transcription	Brain Hippocampus Middle	brain

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