Variant report

Variant	rs72916064
Chromosome Location	chr3:87005393-87005394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10514743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17028628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898267	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898268	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1946747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55854261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56077607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56338126	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56346369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56781488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57070008	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57383190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57543641	0.90[ASN][1000 genomes]
rs57604593	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59090592	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59701679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61594756	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6551256	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6762893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6763484	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6784668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6788077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6802660	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916057	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72916059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916081	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916086	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72918103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72918106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72918107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72918108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72918113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72918116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72918121	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72918124	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72918169	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73844420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73844421	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73844432	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73844434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73844442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73844457	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7617401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7627441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7645797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7649313	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959081	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv534036	chr3:86967129-87283600	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86986800-87014400	Weak transcription	Aorta	Aorta
2	chr3:86987400-87007400	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:86988200-87007600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:86988200-87013400	Weak transcription	Ovary	ovary
5	chr3:86993800-87014200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:86994000-87013200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:86994800-87010400	Weak transcription	Fetal Lung	lung
8	chr3:86996000-87005600	Genic enhancers	Osteobl	bone
9	chr3:86997600-87013200	Genic enhancers	NHDF-Ad	bronchial
10	chr3:86998000-87019800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:86998600-87007600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:86998800-87007600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:86998800-87036000	Weak transcription	Psoas Muscle	Psoas
14	chr3:87000800-87006200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:87000800-87007200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:87001200-87006600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:87003600-87007600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:87003800-87005400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:87003800-87006400	Weak transcription	Placenta	Placenta
20	chr3:87003800-87007400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:87003800-87007600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:87003800-87007600	Weak transcription	HMEC	breast
23	chr3:87003800-87014200	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:87004000-87007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:87004000-87007600	Weak transcription	NHLF	lung
26	chr3:87004200-87007400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:87004200-87007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:87004200-87014400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:87004400-87006400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:87004400-87006400	Strong transcription	HSMM	muscle
31	chr3:87004400-87007600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:87004400-87010400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:87004400-87014200	Weak transcription	Adipose Nuclei	Adipose
34	chr3:87004600-87005400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:87004600-87005800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:87004800-87005600	Genic enhancers	HSMMtube	muscle
37	chr3:87005000-87006800	Strong transcription	NH-A	brain
38	chr3:87005000-87007600	Weak transcription	Hela-S3	cervix
39	chr3:87005200-87005800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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