Variant report

Variant	rs2082993
Chromosome Location	chr3:51525071-51525072
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10510757	0.86[ASN][1000 genomes]
rs10510758	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12485610	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12486568	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12487426	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12487468	0.86[ASN][1000 genomes]
rs12489414	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12490471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12490889	0.87[ASN][1000 genomes]
rs12491048	0.90[ASN][1000 genomes]
rs12492624	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493265	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12493618	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12493857	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493978	0.86[ASN][1000 genomes]
rs12494462	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12494979	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12496340	0.93[EUR][1000 genomes]
rs13089799	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13090348	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13324384	0.87[EUR][1000 genomes]
rs1370124	0.89[ASN][1000 genomes]
rs17051783	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17051811	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17661242	0.92[ASN][1000 genomes]
rs17712228	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2033703	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2217938	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2241785	0.90[ASN][1000 genomes]
rs2304512	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2306430	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2306431	0.87[ASN][1000 genomes]
rs2356261	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2356298	0.98[ASN][1000 genomes]
rs35536327	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3749317	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3792408	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3804766	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3828395	0.89[ASN][1000 genomes]
rs4468966	0.82[ASN][1000 genomes]
rs4687553	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687563	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687592	0.81[EUR][1000 genomes]
rs4687599	0.87[EUR][1000 genomes]
rs4687601	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687605	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687610	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4687656	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687691	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687731	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687769	0.87[EUR][1000 genomes]
rs4687777	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687794	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687803	0.87[AMR][1000 genomes]
rs4687804	0.85[AMR][1000 genomes]
rs4687811	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4687812	0.92[ASN][1000 genomes]
rs4687813	0.92[ASN][1000 genomes]
rs4974096	0.87[ASN][1000 genomes]
rs55667499	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55671465	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55706150	0.87[EUR][1000 genomes]
rs55872019	0.81[EUR][1000 genomes]
rs56239081	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56729479	0.98[ASN][1000 genomes]
rs57027950	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57047724	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57603251	0.83[ASN][1000 genomes]
rs57831708	0.90[ASN][1000 genomes]
rs58059174	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58189274	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58201844	0.82[ASN][1000 genomes]
rs58568178	0.92[ASN][1000 genomes]
rs58762652	1.00[EUR][1000 genomes]
rs58836277	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59563413	0.86[ASN][1000 genomes]
rs59564034	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59838596	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59953568	0.87[ASN][1000 genomes]
rs60007226	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60606339	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61233013	0.95[ASN][1000 genomes]
rs61419317	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61689323	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72945708	0.86[ASN][1000 genomes]
rs72945713	0.89[ASN][1000 genomes]
rs72951443	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72951490	0.87[EUR][1000 genomes]
rs7375146	0.87[EUR][1000 genomes]
rs73834252	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73834253	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73834254	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73834258	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73834265	0.87[EUR][1000 genomes]
rs73837439	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73837442	0.91[ASN][1000 genomes]
rs73837443	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs751076	0.82[ASN][1000 genomes]
rs7642698	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs880478	0.82[ASN][1000 genomes]
rs9817077	0.81[ASN][1000 genomes]
rs9817872	0.81[ASN][1000 genomes]
rs9819195	0.81[ASN][1000 genomes]
rs9820140	0.90[ASN][1000 genomes]
rs9827186	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9829057	0.82[ASN][1000 genomes]
rs9842600	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9843583	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9856134	0.81[ASN][1000 genomes]
rs9861019	0.89[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	chr3:51491400-51532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:51495000-51532600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:51495800-51526800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr3:51495800-51531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:51496000-51531800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:51496200-51530600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:51496200-51531000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:51496400-51525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:51499400-51532800	Weak transcription	Fetal Heart	heart
10	chr3:51500600-51532800	Weak transcription	Fetal Kidney	kidney
11	chr3:51501000-51532400	Weak transcription	Psoas Muscle	Psoas
12	chr3:51501000-51532800	Weak transcription	NH-A	brain
13	chr3:51504800-51533000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:51505000-51531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:51505000-51533000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:51506600-51530800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:51506600-51532600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:51506600-51532600	Weak transcription	K562	blood
19	chr3:51508200-51529800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:51509000-51526400	Strong transcription	Fetal Thymus	thymus
21	chr3:51509800-51525200	Weak transcription	Colonic Mucosa	Colon
22	chr3:51511400-51526600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:51512400-51533000	Weak transcription	Aorta	Aorta
24	chr3:51515200-51529400	Weak transcription	Hela-S3	cervix
25	chr3:51515400-51532600	Weak transcription	HMEC	breast
26	chr3:51515400-51532800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:51516200-51533000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:51516400-51532800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:51516400-51533000	Weak transcription	Stomach Mucosa	stomach
30	chr3:51519000-51528600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:51519200-51529000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr3:51519200-51530400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:51519400-51530600	Strong transcription	Fetal Stomach	stomach
34	chr3:51520000-51526600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr3:51520400-51531000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:51520400-51531200	Strong transcription	Fetal Intestine Small	intestine
37	chr3:51520800-51527000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:51521000-51526800	Strong transcription	Placenta	Placenta
39	chr3:51521000-51527000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:51521000-51527400	Strong transcription	Thymus	Thymus
41	chr3:51521200-51526400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:51521200-51526600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:51521200-51527000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:51521200-51527600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:51521200-51527600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:51521200-51530400	Strong transcription	Dnd41	blood
47	chr3:51521200-51530800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:51521400-51526800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:51521400-51528000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr3:51521400-51528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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