Variant report

Variant	rs12649612
Chromosome Location	chr4:28353949-28353950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12643007	0.98[ASN][1000 genomes]
rs12645676	0.95[ASN][1000 genomes]
rs17627120	0.95[ASN][1000 genomes]
rs17683097	0.98[ASN][1000 genomes]
rs17683204	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17683450	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1874693	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56149177	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61629821	0.91[ASN][1000 genomes]
rs73224011	0.96[ASN][1000 genomes]
rs73224013	0.95[ASN][1000 genomes]
rs73224014	0.95[ASN][1000 genomes]
rs73224016	0.95[ASN][1000 genomes]
rs73224018	0.91[ASN][1000 genomes]
rs73224019	0.91[ASN][1000 genomes]
rs73224025	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005382	chr4:28157180-28403800	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv878775	chr4:28163856-28473048	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1000514	chr4:28192982-28445194	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1012210	chr4:28246489-28419673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010133	chr4:28273244-28642942	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1014938	chr4:28277683-28642942	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1013013	chr4:28323465-28419673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28342800-28356600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:28352600-28354000	Enhancers	HMEC	breast
3	chr4:28352600-28356200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:28352800-28356400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:28353200-28356000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:28353200-28356600	Weak transcription	Brain Substantia Nigra	brain
7	chr4:28353800-28354000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:28353800-28354000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:28353800-28354000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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