Variant report

Variant	rs1983467
Chromosome Location	chr3:143251224-143251225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13061398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13064748	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13068070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13069703	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13071089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13076949	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13085205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13090915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1405017	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1525858	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1525862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1525863	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16853857	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17640925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289451	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35417581	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35593863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4839601	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4839602	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4839642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71307941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71307942	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs746055	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7642430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143223000-143256200	Weak transcription	Esophagus	oesophagus
2	chr3:143239200-143255200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:143241800-143251400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:143245200-143254800	Weak transcription	NHLF	lung
5	chr3:143245200-143255600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:143245400-143255600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:143245600-143255000	Weak transcription	NHDF-Ad	bronchial
8	chr3:143245600-143255800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:143245800-143254600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:143246800-143251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:143246800-143255400	Weak transcription	HSMM	muscle
12	chr3:143247000-143251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:143248000-143255600	Weak transcription	Brain Substantia Nigra	brain
14	chr3:143248200-143251400	Enhancers	Primary B cells from cord blood	blood
15	chr3:143248200-143255800	Weak transcription	Aorta	Aorta
16	chr3:143248400-143255000	Weak transcription	Fetal Stomach	stomach
17	chr3:143248400-143261000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:143248400-143263800	Weak transcription	Primary T cells from cord blood	blood
19	chr3:143248400-143276800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:143248600-143255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:143249000-143255000	Weak transcription	Ovary	ovary
22	chr3:143249000-143255200	Weak transcription	HSMMtube	muscle
23	chr3:143249000-143256200	Weak transcription	Lung	lung
24	chr3:143250200-143252200	Enhancers	Fetal Lung	lung
25	chr3:143250200-143254400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:143250200-143269600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:143250800-143254800	Weak transcription	Dnd41	blood
28	chr3:143251200-143255000	Weak transcription	Primary B cells from peripheral blood	blood

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