Variant report

Variant	rs4478815
Chromosome Location	chr1:10264781-10264782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11121529	0.94[AFR][1000 genomes]
rs6680023	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695456	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10250000-10269800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10262000-10269400	Weak transcription	Fetal Brain Male	brain
3	chr1:10263600-10265200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:10263600-10265400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:10264000-10268200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:10264400-10264800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:10264400-10264800	Flanking Active TSS	HepG2	liver
8	chr1:10264600-10264800	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:10264600-10265400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:10264600-10267600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:10264600-10267600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:10264600-10268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:10264600-10268200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:10264600-10269400	Weak transcription	HSMMtube	muscle

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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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