Variant report

Variant	rs315543
Chromosome Location	chr1:84838111-84838112
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12034653	0.81[AMR][1000 genomes]
rs12037040	0.82[YRI][hapmap]
rs1246550	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1690702	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170278	0.84[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172735	0.83[JPT][hapmap]
rs178367	0.83[JPT][hapmap]
rs178368	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs186405	0.84[JPT][hapmap]
rs315520	0.90[AMR][1000 genomes]
rs315521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315525	0.83[JPT][hapmap]
rs315526	0.84[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315527	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs315528	0.83[JPT][hapmap]
rs315530	0.83[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315531	0.83[JPT][hapmap]
rs315536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315541	0.94[ASN][1000 genomes]
rs315542	0.94[ASN][1000 genomes]
rs315544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315552	0.83[JPT][hapmap]
rs315553	0.83[JPT][hapmap]
rs315554	0.84[JPT][hapmap]
rs315555	0.83[JPT][hapmap]
rs315556	0.83[JPT][hapmap]
rs316660	0.83[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316661	0.83[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316662	0.84[JPT][hapmap]
rs316663	0.83[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316664	0.84[JPT][hapmap]
rs316665	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs487220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575277	1.00[ASN][1000 genomes]
rs592464	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84829800-84840400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:84832000-84838600	Weak transcription	Psoas Muscle	Psoas
3	chr1:84832600-84842800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:84833200-84842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:84833600-84839200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:84834800-84839200	Weak transcription	Fetal Heart	heart
7	chr1:84836000-84838600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:84836200-84840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:84836600-84838400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:84836600-84841800	Weak transcription	Fetal Brain Male	brain
11	chr1:84836800-84839400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:84836800-84839600	Weak transcription	Osteobl	bone
13	chr1:84837000-84839800	Weak transcription	Primary T cells from cord blood	blood
14	chr1:84837000-84840200	Weak transcription	Brain Angular Gyrus	brain
15	chr1:84837000-84841800	Weak transcription	NHLF	lung
16	chr1:84837000-84842000	Weak transcription	NH-A	brain
17	chr1:84837200-84839000	Weak transcription	HSMMtube	muscle
18	chr1:84837200-84840400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:84837200-84842600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:84837400-84840400	Weak transcription	NHDF-Ad	bronchial
21	chr1:84837400-84840600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:84837400-84840600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:84837600-84840400	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:84837800-84841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:84838000-84840800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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