Variant report

Variant	rs7514630
Chromosome Location	chr1:219985001-219985002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12091225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17006690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17006696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7527063	0.87[AFR][1000 genomes]
rs7529610	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:219972200-219985600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:219980200-219985600	Weak transcription	NH-A	brain
3	chr1:219980400-219985200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:219983600-219987000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:219983800-219986400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:219983800-219986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:219984200-219986600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:219984400-219985400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:219984400-219985600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:219984400-219986000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:219985000-219986000	Enhancers	Fetal Kidney	kidney
12	chr1:219985000-219986600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:219985000-219986800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:219985000-219986800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:219985000-219987000	Enhancers	Brain Substantia Nigra	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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