Variant report

Variant	rs450450
Chromosome Location	chr2:40434239-40434240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10490209	0.92[CEU][hapmap]
rs105287	0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs106706	0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs107008	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12993486	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs1617492	0.83[ASN][1000 genomes]
rs1641453	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1641454	0.95[ASN][1000 genomes]
rs1651354	0.85[ASN][1000 genomes]
rs17025367	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs17025372	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17025380	0.89[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs17025588	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2072529	0.89[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2072530	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2270327	0.83[ASN][1000 genomes]
rs2540904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs367596	0.95[ASN][1000 genomes]
rs368577	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs368613	0.84[ASN][1000 genomes]
rs369251	0.87[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs371492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs372072	0.89[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs373273	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs376303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs376535	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs379804	0.87[ASN][1000 genomes]
rs380590	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs381610	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs384673	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs385341	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs385665	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs386984	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs388467	0.85[ASN][1000 genomes]
rs390145	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs392317	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs392953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs395755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs395987	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs398006	0.83[ASN][1000 genomes]
rs398898	0.87[ASN][1000 genomes]
rs402777	0.85[ASN][1000 genomes]
rs404005	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs404214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs404226	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs405804	0.89[CHB][hapmap];0.80[YRI][hapmap];0.83[ASN][1000 genomes]
rs407148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs408263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs409522	0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs410912	0.86[ASN][1000 genomes]
rs419125	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs426140	0.83[ASN][1000 genomes]
rs433572	0.89[CHB][hapmap]
rs435404	0.94[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs436245	0.85[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs446538	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs447136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs449383	0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs473400	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481800	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs530048	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60592471	0.88[ASN][1000 genomes]
rs62148799	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66950674	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6706969	0.95[ASN][1000 genomes]
rs671010	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6757136	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv526425	chr2:40418386-40447587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv526074	chr2:40423454-40451724	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40418600-40445800	Weak transcription	Dnd41	blood
3	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:40422000-40435200	Weak transcription	Fetal Kidney	kidney
5	chr2:40422600-40436400	Weak transcription	Right Ventricle	heart
6	chr2:40430600-40439600	Weak transcription	HSMM	muscle
7	chr2:40430800-40435000	Weak transcription	Osteobl	bone
8	chr2:40430800-40439800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:40431200-40436400	Weak transcription	Left Ventricle	heart
10	chr2:40431200-40440600	Weak transcription	Fetal Stomach	stomach
11	chr2:40431400-40439800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:40431400-40440200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:40431600-40434800	Weak transcription	Fetal Heart	heart
14	chr2:40431600-40436400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:40431800-40434600	Weak transcription	Fetal Brain Male	brain
16	chr2:40431800-40435000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:40431800-40440000	Weak transcription	NHDF-Ad	bronchial
18	chr2:40432200-40440200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:40433400-40434600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:40434000-40435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:40434200-40437200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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