Variant report

Variant	rs360543
Chromosome Location	chr6:49681378-49681379
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1621948	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168623	0.92[ASN][1000 genomes]
rs183115	0.95[ASN][1000 genomes]
rs184857	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068681	0.94[CEU][hapmap];0.85[CHB][hapmap]
rs2104029	1.00[CHB][hapmap]
rs360541	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360555	0.95[ASN][1000 genomes]
rs3799688	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs483914	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488132	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500032	0.93[ASN][1000 genomes]
rs502256	0.83[ASN][1000 genomes]
rs512299	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513343	1.00[JPT][hapmap]
rs521489	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521492	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553584	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56085173	0.93[ASN][1000 genomes]
rs56148648	0.98[ASN][1000 genomes]
rs571257	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584490	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584747	0.93[ASN][1000 genomes]
rs597544	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614217	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs623996	0.98[ASN][1000 genomes]
rs626221	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633319	0.98[ASN][1000 genomes]
rs643775	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458712	1.00[CHB][hapmap]
rs659190	0.95[ASN][1000 genomes]
rs670624	0.95[ASN][1000 genomes]
rs6922618	1.00[CHB][hapmap]
rs6925452	0.93[CHB][hapmap]
rs693929	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696717	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699959	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699960	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699962	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699972	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs699974	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs699982	0.98[ASN][1000 genomes]
rs699990	0.98[ASN][1000 genomes]
rs699991	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs699993	0.95[ASN][1000 genomes]
rs699994	0.95[ASN][1000 genomes]
rs699996	0.93[ASN][1000 genomes]
rs7760595	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs780445	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812969	0.97[EUR][1000 genomes];1.00[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	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49672600-49681800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:49681000-49681400	Enhancers	Fetal Brain Male	brain
3	chr6:49681000-49681600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:49681000-49681600	Flanking Active TSS	Pancreas	Pancrea
5	chr6:49681000-49681800	Active TSS	Fetal Brain Female	brain
6	chr6:49681000-49682000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:49681000-49682000	Bivalent/Poised TSS	NHEK	skin
8	chr6:49681000-49682200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:49681200-49681400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:49681200-49681400	Bivalent Enhancer	Esophagus	oesophagus
11	chr6:49681200-49681600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
12	chr6:49681200-49681600	Active TSS	Brain Anterior Caudate	brain
13	chr6:49681200-49681600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:49681200-49681600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr6:49681200-49681800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:49681200-49681800	Active TSS	Brain Germinal Matrix	brain
17	chr6:49681200-49681800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr6:49681200-49681800	Active TSS	Fetal Intestine Large	intestine
19	chr6:49681200-49681800	Active TSS	Fetal Kidney	kidney
20	chr6:49681200-49682000	Active TSS	Duodenum Smooth Muscle	Duodenum

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