Variant report

Variant	rs4687610
Chromosome Location	chr3:51483210-51483211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10510757	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10510758	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12485610	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12487426	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12487468	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12489219	0.83[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs12489414	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490471	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12490889	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12491048	0.97[ASN][1000 genomes]
rs12492624	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12493265	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12493618	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493857	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12493978	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12494462	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12494979	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13089799	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13090348	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370124	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17051783	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17051811	0.91[ASN][1000 genomes]
rs17661242	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17712228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842394	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2033703	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2061949	0.94[MEX][hapmap]
rs2082992	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2082993	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2101056	0.82[CHB][hapmap]
rs2170177	0.83[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap]
rs2217938	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241785	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304512	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2306430	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306431	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356261	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2356298	0.95[ASN][1000 genomes]
rs35536327	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3749317	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792408	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3804766	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3828395	0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4468966	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4687553	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687563	0.93[ASN][1000 genomes]
rs4687601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687605	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4687656	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4687691	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4687731	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687777	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687794	0.92[ASN][1000 genomes]
rs4687803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4687804	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4687811	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687812	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687813	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974096	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4974098	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4974112	0.83[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs55667499	0.93[ASN][1000 genomes]
rs55671465	0.87[ASN][1000 genomes]
rs56239081	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56729479	0.95[ASN][1000 genomes]
rs57027950	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047724	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57603251	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57700326	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57831708	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58059174	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58189274	0.83[ASN][1000 genomes]
rs58201844	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58568178	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58836277	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59563413	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59838596	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59953568	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60606339	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61233013	0.92[ASN][1000 genomes]
rs61419317	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61689323	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72945708	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72945713	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72951443	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73834252	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73834253	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73834254	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73834258	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73837435	0.90[AFR][1000 genomes]
rs73837437	0.84[AFR][1000 genomes]
rs73837438	0.90[AFR][1000 genomes]
rs73837439	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73837442	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73837443	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751076	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7642698	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs880478	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9817077	0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[ASN][1000 genomes]
rs9817872	0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[ASN][1000 genomes]
rs9819195	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9820140	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9827186	0.91[ASN][1000 genomes]
rs9829057	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs9842600	0.92[ASN][1000 genomes]
rs9843583	0.92[ASN][1000 genomes]
rs9856134	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9861019	0.88[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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51458200-51489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:51458200-51515000	Weak transcription	Fetal Brain Male	brain
3	chr3:51458400-51500200	Weak transcription	Psoas Muscle	Psoas
4	chr3:51458800-51503800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:51467800-51502000	Weak transcription	HMEC	breast
6	chr3:51467800-51524000	Weak transcription	Small Intestine	intestine
7	chr3:51470600-51498400	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:51472000-51498000	Weak transcription	NHEK	skin
9	chr3:51474200-51497600	Weak transcription	Ovary	ovary
10	chr3:51475800-51484400	Weak transcription	A549	lung
11	chr3:51475800-51495800	Weak transcription	Fetal Kidney	kidney
12	chr3:51475800-51496200	Weak transcription	Spleen	Spleen
13	chr3:51475800-51498600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:51475800-51499200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:51475800-51500400	Weak transcription	K562	blood
16	chr3:51476000-51483800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:51476000-51484600	Weak transcription	Fetal Lung	lung
18	chr3:51476000-51484600	Weak transcription	HSMM	muscle
19	chr3:51476000-51488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:51476000-51489200	Weak transcription	Thymus	Thymus
21	chr3:51476000-51489400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:51476000-51489600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:51476000-51490000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:51476000-51490000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:51476000-51495800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:51476000-51496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:51476000-51496200	Weak transcription	Left Ventricle	heart
28	chr3:51476000-51496200	Weak transcription	Pancreas	Pancrea
29	chr3:51476000-51496200	Weak transcription	HUVEC	blood vessel
30	chr3:51476000-51497000	Weak transcription	NHDF-Ad	bronchial
31	chr3:51476000-51497200	Weak transcription	Hela-S3	cervix
32	chr3:51476000-51497400	Weak transcription	Brain Substantia Nigra	brain
33	chr3:51476000-51497600	Weak transcription	Aorta	Aorta
34	chr3:51476000-51497600	Weak transcription	Gastric	stomach
35	chr3:51476000-51498600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:51476000-51499800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:51476000-51506000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:51476200-51489200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:51476200-51495600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:51476200-51495800	Weak transcription	Lung	lung
41	chr3:51476200-51500000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:51476200-51500200	Weak transcription	Osteobl	bone
43	chr3:51476400-51483600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:51476400-51484400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:51476400-51484400	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:51476400-51485200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:51476400-51489000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:51476400-51489200	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:51476400-51490000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:51476400-51495600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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