Variant report

Variant	rs4680543
Chromosome Location	chr3:159770500-159770501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12493855	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12633610	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2009534	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679870	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4680550	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4680551	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4680555	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441294	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6786929	0.81[EUR][1000 genomes]
rs6807951	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs746101	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7623472	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9290055	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9821064	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9821775	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9842760	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9847023	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9880666	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9881430	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	nsv829769	chr3:159606913-159805282	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159766400-159772800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:159767600-159770600	Weak transcription	Aorta	Aorta
3	chr3:159768000-159771000	Weak transcription	Gastric	stomach
4	chr3:159769800-159771000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr3:159770000-159771000	Flanking Active TSS	HMEC	breast
6	chr3:159770000-159771400	Active TSS	Colon Smooth Muscle	Colon
7	chr3:159770200-159770600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:159770200-159770600	Flanking Active TSS	Ovary	ovary
9	chr3:159770200-159770600	Enhancers	Pancreas	Pancrea
10	chr3:159770200-159770800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:159770200-159771000	Enhancers	Fetal Heart	heart
12	chr3:159770200-159771200	Active TSS	Stomach Smooth Muscle	stomach
13	chr3:159770400-159770600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:159770400-159770600	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr3:159770400-159770800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:159770400-159770800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:159770400-159770800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:159770400-159770800	Enhancers	A549	lung
19	chr3:159770400-159770800	Enhancers	Osteobl	bone
20	chr3:159770400-159771000	Active TSS	Brain Angular Gyrus	brain
21	chr3:159770400-159771000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr3:159770400-159771000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr3:159770400-159771000	Active TSS	Fetal Brain Male	brain
24	chr3:159770400-159771200	Flanking Active TSS	Liver	Liver
25	chr3:159770400-159771200	Active TSS	Brain Anterior Caudate	brain
26	chr3:159770400-159771200	Active TSS	Brain Hippocampus Middle	brain
27	chr3:159770400-159771200	Active TSS	Brain Substantia Nigra	brain
28	chr3:159770400-159771200	Enhancers	Spleen	Spleen
29	chr3:159770400-159771200	Flanking Active TSS	HepG2	liver

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