Variant report

Variant	rs74093482
Chromosome Location	chr13:67789227-67789228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs3812858	1.00[ASN][1000 genomes]
rs60699671	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73511412	1.00[ASN][1000 genomes]
rs73511438	1.00[ASN][1000 genomes]
rs73511443	1.00[ASN][1000 genomes]
rs73511445	1.00[ASN][1000 genomes]
rs73511447	1.00[ASN][1000 genomes]
rs74093470	0.92[AFR][1000 genomes]
rs9317648	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9317649	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9592505	1.00[ASN][1000 genomes]
rs9599198	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9599199	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[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	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67731400-67795400	Weak transcription	Primary B cells from cord blood	blood
2	chr13:67756200-67795800	Weak transcription	Left Ventricle	heart
3	chr13:67772200-67797200	Weak transcription	Fetal Kidney	kidney
4	chr13:67779400-67791000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:67780200-67791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:67783800-67795200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:67784000-67791000	Weak transcription	Brain Anterior Caudate	brain
8	chr13:67784400-67789600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:67784600-67792000	Weak transcription	A549	lung
10	chr13:67785000-67790200	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:67785600-67789600	Weak transcription	Brain Substantia Nigra	brain
12	chr13:67787600-67791000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:67788000-67790400	Strong transcription	HSMM	muscle
14	chr13:67788600-67791000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:67788800-67789600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:67789000-67790000	Weak transcription	Brain Angular Gyrus	brain

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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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