Variant report

Variant	rs590875
Chromosome Location	chr1:168686134-168686135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs512129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523447	0.87[ASN][1000 genomes]
rs528953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs529949	0.96[ASN][1000 genomes]
rs531706	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534503	0.85[ASN][1000 genomes]
rs542149	0.96[ASN][1000 genomes]
rs544013	0.85[ASN][1000 genomes]
rs545833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553721	0.90[EUR][1000 genomes]
rs573418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581753	0.92[ASN][1000 genomes]
rs590033	0.84[ASN][1000 genomes]
rs607484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635954	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427145	0.96[ASN][1000 genomes]
rs678629	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681316	0.90[EUR][1000 genomes]
rs686226	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:168676400-168687400	Weak transcription	Ovary	ovary
2	chr1:168678200-168695600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:168679200-168694600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:168679600-168694600	Weak transcription	Fetal Stomach	stomach
5	chr1:168679800-168686400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:168679800-168694600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:168680200-168687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:168680200-168694800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:168681000-168687200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:168681000-168687200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:168681400-168692400	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:168682800-168687000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:168683600-168687000	Weak transcription	Pancreas	Pancrea
14	chr1:168683600-168687200	Weak transcription	HMEC	breast
15	chr1:168683600-168687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:168683600-168687800	Weak transcription	NHEK	skin
17	chr1:168683600-168688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:168683600-168688200	Weak transcription	Hela-S3	cervix
19	chr1:168683600-168696000	Weak transcription	Left Ventricle	heart
20	chr1:168684600-168687200	Weak transcription	HSMMtube	muscle

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