Variant report

Variant	rs74047144
Chromosome Location	chr13:38319342-38319343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1155260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1413001	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7321803	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047131	1.00[EUR][1000 genomes]
rs74047132	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74047135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047139	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047141	1.00[EUR][1000 genomes]
rs74047142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047152	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74047153	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74047157	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74047159	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74049742	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs963953	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3383124	chr13:38318752-38320800	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38307600-38330800	Weak transcription	Ovary	ovary
2	chr13:38308200-38328200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:38309200-38320600	Weak transcription	NHLF	lung
4	chr13:38309600-38321000	Weak transcription	Osteobl	bone
5	chr13:38316000-38320200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:38316000-38321000	Weak transcription	NHDF-Ad	bronchial
7	chr13:38316000-38328200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:38316600-38320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:38319000-38320200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:38319000-38323000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:38319200-38320800	Weak transcription	NH-A	brain

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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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