Variant report

Variant	rs56239081
Chromosome Location	chr3:51522932-51522933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10510757	0.88[ASN][1000 genomes]
rs10510758	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12485610	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486568	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12487426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487468	0.89[ASN][1000 genomes]
rs12489414	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12490471	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490889	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12491048	0.92[ASN][1000 genomes]
rs12492624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493265	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493618	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12493857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493978	0.89[ASN][1000 genomes]
rs12494462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494979	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12496340	0.80[EUR][1000 genomes]
rs13089799	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13090348	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1370124	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17051783	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17051811	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17661242	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17712228	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1842394	0.81[ASN][1000 genomes]
rs2033703	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2082992	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2082993	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2217938	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241785	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304512	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306430	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2306431	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2356261	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356298	1.00[ASN][1000 genomes]
rs35536327	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3749317	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792408	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3804766	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3828395	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4468966	0.84[ASN][1000 genomes]
rs4687553	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4687563	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687601	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687605	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687610	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687656	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4687691	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687731	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687777	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687794	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687803	0.90[AMR][1000 genomes]
rs4687804	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4687811	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4687812	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687813	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4974096	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55667499	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55671465	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56729479	1.00[ASN][1000 genomes]
rs57027950	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57047724	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57603251	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57700326	0.81[ASN][1000 genomes]
rs57831708	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58059174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58189274	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58201844	0.84[ASN][1000 genomes]
rs58568178	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58762652	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58836277	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59563413	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59564034	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59838596	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59953568	0.89[ASN][1000 genomes]
rs60007226	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60606339	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61233013	0.97[ASN][1000 genomes]
rs61419317	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61689323	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72945708	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72945713	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72951443	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73834252	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73834253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73834254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73834258	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73837439	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73837442	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73837443	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs751076	0.84[ASN][1000 genomes]
rs7642698	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs880478	0.84[ASN][1000 genomes]
rs9817077	0.83[ASN][1000 genomes]
rs9817872	0.83[ASN][1000 genomes]
rs9819195	0.83[ASN][1000 genomes]
rs9820140	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9827186	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9829057	0.84[ASN][1000 genomes]
rs9842600	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9843583	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9856134	0.83[ASN][1000 genomes]
rs9861019	0.91[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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51467800-51524000	Weak transcription	Small Intestine	intestine
2	chr3:51491400-51532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:51495000-51532600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:51495800-51526800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr3:51495800-51531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:51496000-51531800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:51496200-51530600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:51496200-51531000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:51496400-51525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:51497200-51524400	Weak transcription	Right Ventricle	heart
11	chr3:51499400-51532800	Weak transcription	Fetal Heart	heart
12	chr3:51500600-51532800	Weak transcription	Fetal Kidney	kidney
13	chr3:51501000-51532400	Weak transcription	Psoas Muscle	Psoas
14	chr3:51501000-51532800	Weak transcription	NH-A	brain
15	chr3:51504800-51533000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:51505000-51531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:51505000-51533000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:51506400-51523200	Weak transcription	HSMMtube	muscle
19	chr3:51506600-51523000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:51506600-51530800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:51506600-51532600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:51506600-51532600	Weak transcription	K562	blood
23	chr3:51508200-51529800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:51509000-51526400	Strong transcription	Fetal Thymus	thymus
25	chr3:51509800-51525200	Weak transcription	Colonic Mucosa	Colon
26	chr3:51511400-51526600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:51512400-51533000	Weak transcription	Aorta	Aorta
28	chr3:51513600-51523000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:51513600-51524200	Weak transcription	Pancreas	Pancrea
30	chr3:51515200-51523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:51515200-51524200	Weak transcription	HSMM	muscle
32	chr3:51515200-51529400	Weak transcription	Hela-S3	cervix
33	chr3:51515400-51524200	Weak transcription	Osteobl	bone
34	chr3:51515400-51525000	Weak transcription	Fetal Brain Male	brain
35	chr3:51515400-51532600	Weak transcription	HMEC	breast
36	chr3:51515400-51532800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:51515600-51524200	Weak transcription	Fetal Lung	lung
38	chr3:51515600-51524200	Weak transcription	HepG2	liver
39	chr3:51516200-51523000	Weak transcription	HUVEC	blood vessel
40	chr3:51516200-51533000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:51516400-51523000	Weak transcription	NHLF	lung
42	chr3:51516400-51524200	Weak transcription	NHEK	skin
43	chr3:51516400-51524600	Weak transcription	Brain Substantia Nigra	brain
44	chr3:51516400-51532800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:51516400-51533000	Weak transcription	Stomach Mucosa	stomach
46	chr3:51516600-51523000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:51516600-51523000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:51516600-51523400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:51516600-51524200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:51516600-51524200	Weak transcription	Brain Cingulate Gyrus	brain

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