Variant report

Variant	rs2670339
Chromosome Location	chr3:99221871-99221872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10049046	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1014514	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1014515	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs13062862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13077795	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13317800	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1398741	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1398742	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1476316	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1476317	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1513298	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1513299	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513307	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16841279	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16841281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16841326	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2137594	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2175747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2342601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2700588	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2880365	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7633545	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9818744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9823688	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9858097	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv3916	chr3:99186008-99232052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3422853	chr3:99208019-99342748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99218200-99222200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:99218800-99224000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:99218800-99226200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:99219600-99222400	Weak transcription	HSMMtube	muscle
5	chr3:99219800-99224600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:99219800-99224800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:99219800-99225000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:99220000-99222200	Weak transcription	Left Ventricle	heart
9	chr3:99220000-99222200	Weak transcription	Ovary	ovary
10	chr3:99220000-99227000	Weak transcription	Aorta	Aorta
11	chr3:99220200-99222200	Weak transcription	NHEK	skin
12	chr3:99220400-99226600	Weak transcription	Right Atrium	heart
13	chr3:99221200-99225000	Enhancers	Adipose Nuclei	Adipose
14	chr3:99221600-99223000	Enhancers	HUVEC	blood vessel
15	chr3:99221600-99225000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:99221600-99225000	Enhancers	NHDF-Ad	bronchial
17	chr3:99221600-99225200	Enhancers	Osteobl	bone
18	chr3:99221600-99225400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:99221600-99225400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:99221800-99222600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:99221800-99223400	Enhancers	Colon Smooth Muscle	Colon
22	chr3:99221800-99223800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:99221800-99224200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:99221800-99224800	Enhancers	NHLF	lung
25	chr3:99221800-99225000	Enhancers	HSMM	muscle

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