Variant report

Variant	rs2430409
Chromosome Location	chr1:223389549-223389550
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1640803	0.86[EUR][1000 genomes]
rs2160152	0.86[EUR][1000 genomes]
rs2430407	1.00[EUR][1000 genomes]
rs2430408	1.00[EUR][1000 genomes]
rs28520264	1.00[AMR][1000 genomes]
rs34071437	1.00[EUR][1000 genomes]
rs34218350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35227692	1.00[EUR][1000 genomes]
rs35412940	0.86[EUR][1000 genomes]
rs35551279	1.00[EUR][1000 genomes]
rs35778136	1.00[EUR][1000 genomes]
rs5744171	1.00[AMR][1000 genomes]
rs5744175	1.00[AMR][1000 genomes]
rs5744177	1.00[AMR][1000 genomes]
rs712862	0.86[EUR][1000 genomes]
rs73118166	0.86[EUR][1000 genomes]
rs73118168	0.86[EUR][1000 genomes]
rs73118170	0.86[EUR][1000 genomes]
rs73118175	0.86[EUR][1000 genomes]
rs73120206	0.86[EUR][1000 genomes]
rs73120222	0.86[EUR][1000 genomes]
rs73120234	0.86[EUR][1000 genomes]
rs73120236	1.00[EUR][1000 genomes]
rs73120250	1.00[EUR][1000 genomes]
rs73120253	1.00[EUR][1000 genomes]
rs73120257	1.00[EUR][1000 genomes]
rs73120261	1.00[EUR][1000 genomes]
rs73120265	1.00[EUR][1000 genomes]
rs73120267	1.00[EUR][1000 genomes]
rs73120269	1.00[EUR][1000 genomes]
rs73120297	1.00[EUR][1000 genomes]
rs851140	0.86[EUR][1000 genomes]
rs851144	0.86[EUR][1000 genomes]
rs851145	1.00[EUR][1000 genomes]
rs851146	0.86[EUR][1000 genomes]
rs851147	0.86[EUR][1000 genomes]
rs851148	1.00[EUR][1000 genomes]
rs851150	1.00[EUR][1000 genomes]
rs851151	0.86[EUR][1000 genomes]
rs851152	1.00[EUR][1000 genomes]
rs851154	1.00[EUR][1000 genomes]
rs851155	1.00[EUR][1000 genomes]
rs851156	0.86[EUR][1000 genomes]
rs851157	1.00[AFR][1000 genomes]
rs851158	1.00[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223371200-223389800	Weak transcription	Gastric	stomach
2	chr1:223377000-223392200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:223386000-223389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:223386200-223391800	Weak transcription	Ovary	ovary
5	chr1:223386800-223389600	Weak transcription	Fetal Brain Male	brain
6	chr1:223387800-223392400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:223387800-223392400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:223388000-223389600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:223388800-223389800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:223389000-223390400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:223389400-223390600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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