Variant report

Variant	rs449383
Chromosome Location	chr2:40424444-40424445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs105287	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs106706	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs107008	0.86[ASN][1000 genomes]
rs12993486	0.86[ASN][1000 genomes]
rs1651354	0.86[ASN][1000 genomes]
rs17025367	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs17025372	0.83[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs17025380	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17025588	0.85[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap]
rs2072529	0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2072530	0.81[JPT][hapmap]
rs2270327	0.84[ASN][1000 genomes]
rs2540904	0.85[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap]
rs368577	0.83[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.98[ASN][1000 genomes]
rs368613	0.99[ASN][1000 genomes]
rs371492	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs372072	0.83[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs373273	0.80[ASN][1000 genomes]
rs376303	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs376535	0.80[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs379804	0.88[ASN][1000 genomes]
rs381610	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs384673	0.88[ASN][1000 genomes]
rs385341	0.80[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs385665	0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs386984	0.84[ASN][1000 genomes]
rs388467	0.86[ASN][1000 genomes]
rs390145	0.85[JPT][hapmap]
rs392953	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs395755	0.81[ASN][1000 genomes]
rs395987	0.85[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs398006	0.99[ASN][1000 genomes]
rs398898	0.88[ASN][1000 genomes]
rs402777	0.86[ASN][1000 genomes]
rs404005	0.84[ASW][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs404214	0.85[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs404226	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs405804	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs407148	0.85[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs408263	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs409522	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs410912	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs433572	0.88[CHD][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs435404	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs436245	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs446538	0.84[ASN][1000 genomes]
rs447136	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs450450	0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs473400	0.82[ASN][1000 genomes]
rs60592471	0.86[ASN][1000 genomes]
rs66950674	0.84[ASN][1000 genomes]
rs671010	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv2763455	chr2:40416373-40433420	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1001866	chr2:40416373-40433420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv581503	chr2:40417012-40430611	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv581504	chr2:40418386-40430611	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs449383	FAM82A1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40400600-40426800	Weak transcription	Osteobl	bone
2	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:40416000-40425800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
5	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40418600-40445800	Weak transcription	Dnd41	blood
7	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:40420400-40426200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:40420600-40424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:40420600-40430000	Weak transcription	NHLF	lung
11	chr2:40420800-40428800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:40421200-40429200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:40422000-40435200	Weak transcription	Fetal Kidney	kidney
14	chr2:40422200-40430000	Weak transcription	Left Ventricle	heart
15	chr2:40422600-40436400	Weak transcription	Right Ventricle	heart
16	chr2:40423600-40426800	Enhancers	HSMM	muscle
17	chr2:40424000-40424600	Enhancers	Fetal Brain Male	brain
18	chr2:40424000-40424800	Enhancers	Fetal Brain Female	brain
19	chr2:40424000-40427000	Genic enhancers	Fetal Heart	heart
20	chr2:40424200-40424600	Flanking Active TSS	HSMMtube	muscle
21	chr2:40424200-40425000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:40424200-40425200	Enhancers	Fetal Muscle Leg	muscle
23	chr2:40424400-40424600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:40424400-40424800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:40424400-40424800	Enhancers	Colon Smooth Muscle	Colon

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