Variant report

Variant	rs12123933
Chromosome Location	chr1:184159619-184159620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10752934	0.91[ASN][1000 genomes]
rs1078926	0.91[ASN][1000 genomes]
rs11582627	0.92[ASN][1000 genomes]
rs12136030	0.90[ASN][1000 genomes]
rs1327143	0.96[CHB][hapmap]
rs17574056	0.81[ASN][1000 genomes]
rs1887295	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025808	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2042556	0.85[ASN][1000 genomes]
rs59795179	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60072887	0.91[ASN][1000 genomes]
rs6684045	0.82[ASN][1000 genomes]
rs6690187	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67878484	0.81[ASN][1000 genomes]
rs7527771	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540770	0.96[CHB][hapmap]
rs997343	0.82[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184157000-184162000	Weak transcription	Right Ventricle	heart
2	chr1:184157000-184162200	Weak transcription	Left Ventricle	heart
3	chr1:184157800-184160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:184157800-184160000	Weak transcription	NHLF	lung
5	chr1:184157800-184162400	Enhancers	Fetal Heart	heart
6	chr1:184158600-184160800	Enhancers	Fetal Brain Female	brain
7	chr1:184158600-184163200	Enhancers	Fetal Stomach	stomach
8	chr1:184158800-184160000	Enhancers	Brain Hippocampus Middle	brain
9	chr1:184159000-184160000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:184159400-184159800	Weak transcription	Fetal Brain Male	brain
11	chr1:184159400-184160800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:184159400-184161400	Enhancers	Fetal Lung	lung
13	chr1:184159600-184160400	Enhancers	Brain Angular Gyrus	brain
14	chr1:184159600-184160400	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:184159600-184160600	Enhancers	Brain Germinal Matrix	brain
16	chr1:184159600-184160600	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr1:184159600-184160600	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr1:184159600-184161600	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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