Variant report

Variant	rs487220
Chromosome Location	chr1:84842364-84842365
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12034653	0.81[AMR][1000 genomes]
rs1246550	1.00[EUR][1000 genomes]
rs1690702	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170278	1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172735	0.81[CHB][hapmap]
rs178367	0.81[CHB][hapmap]
rs178368	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315520	0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs315521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315523	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315525	0.81[CHB][hapmap];0.82[YRI][hapmap]
rs315526	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315527	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs315530	0.81[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315531	0.81[CHB][hapmap]
rs315536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315541	0.94[ASN][1000 genomes]
rs315542	0.94[ASN][1000 genomes]
rs315543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315552	0.81[CHB][hapmap]
rs315553	0.81[CHB][hapmap]
rs315555	0.81[CHB][hapmap]
rs316644	1.00[YRI][hapmap]
rs316660	0.81[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316661	0.81[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316663	0.81[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316665	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575277	1.00[ASN][1000 genomes]
rs592464	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642774	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84832600-84842800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:84833200-84842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:84837200-84842600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:84838400-84843800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:84838600-84843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:84838600-84843600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:84839600-84845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:84839800-84844000	Enhancers	Fetal Muscle Leg	muscle
9	chr1:84840000-84842800	Weak transcription	Left Ventricle	heart
10	chr1:84840200-84843400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:84840200-84845800	Enhancers	Osteobl	bone
12	chr1:84840400-84843800	Enhancers	Brain Hippocampus Middle	brain
13	chr1:84840400-84844000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:84840400-84846400	Enhancers	NHDF-Ad	bronchial
15	chr1:84840600-84843200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:84840600-84843400	Weak transcription	Right Atrium	heart
17	chr1:84840600-84845800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:84840800-84846400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:84841000-84842400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:84841000-84843200	Weak transcription	Psoas Muscle	Psoas
21	chr1:84841200-84843000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:84841400-84842600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:84841600-84842600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:84841600-84842800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:84841600-84842800	Weak transcription	Fetal Heart	heart
26	chr1:84841600-84843200	Weak transcription	Brain Substantia Nigra	brain
27	chr1:84841800-84842600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:84841800-84842800	Enhancers	Fetal Brain Male	brain
29	chr1:84841800-84843400	Enhancers	NHLF	lung
30	chr1:84841800-84844000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:84841800-84844400	Weak transcription	HSMMtube	muscle
32	chr1:84842000-84843600	Enhancers	Colon Smooth Muscle	Colon
33	chr1:84842000-84845600	Enhancers	NH-A	brain
34	chr1:84842200-84844000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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