Variant report

Variant	rs11728750
Chromosome Location	chr1:114181629-114181630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1018289	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10857125	0.82[EUR][1000 genomes]
rs11098931	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11098933	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11732886	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12331481	0.83[EUR][1000 genomes]
rs12509562	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12511932	0.85[ASN][1000 genomes]
rs12649427	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12650360	0.88[ASN][1000 genomes]
rs13126673	0.83[EUR][1000 genomes]
rs13151291	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1399211	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1459049	0.83[EUR][1000 genomes]
rs1459051	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1514298	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1913464	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2048686	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2125573	0.85[EUR][1000 genomes]
rs2255457	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2391188	0.92[ASN][1000 genomes]
rs2391189	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34066758	0.85[EUR][1000 genomes]
rs34240473	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36179490	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4543128	0.83[EUR][1000 genomes]
rs4833380	0.83[EUR][1000 genomes]
rs4833383	0.85[EUR][1000 genomes]
rs4833384	0.84[EUR][1000 genomes]
rs4833386	0.86[EUR][1000 genomes]
rs4834209	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4834210	0.84[EUR][1000 genomes]
rs4834211	0.82[EUR][1000 genomes]
rs59255549	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62334037	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534631	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6534633	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6534634	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6534637	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6810904	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6823957	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6828511	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6847397	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6858855	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7683627	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7686395	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7692114	0.85[EUR][1000 genomes]
rs7694079	0.83[EUR][1000 genomes]
rs922060	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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:46 , 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	chr1:114172400-114182000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:114172400-114184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:114172400-114192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:114173000-114184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:114173000-114184600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
17	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
18	chr1:114173200-114184600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:114173200-114184600	Weak transcription	Ovary	ovary
20	chr1:114173400-114182800	Weak transcription	Fetal Lung	lung
21	chr1:114173400-114184600	Weak transcription	Primary T cells from cord blood	blood
22	chr1:114173600-114182000	Weak transcription	Placenta	Placenta
23	chr1:114173600-114183800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:114173600-114184600	Weak transcription	Liver	Liver
25	chr1:114173600-114195000	Weak transcription	HMEC	breast
26	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:114173800-114182000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:114173800-114184600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:114173800-114184600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:114173800-114196200	Weak transcription	Gastric	stomach
31	chr1:114173800-114199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:114173800-114201800	Weak transcription	Colonic Mucosa	Colon
33	chr1:114173800-114201800	Weak transcription	Lung	lung
34	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
35	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:114174000-114182000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:114174000-114184600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:114174000-114184600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:114175400-114181800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
41	chr1:114180400-114184600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:114181000-114182800	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr1:114181200-114182600	ZNF genes & repeats	Fetal Stomach	stomach
44	chr1:114181200-114199400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:114181400-114184600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:114181600-114181800	Weak transcription	Brain Germinal Matrix	brain

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