Variant report

Variant	rs56064148
Chromosome Location	chr2:48003765-48003766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11885260	1.00[AMR][1000 genomes]
rs17036985	1.00[AMR][1000 genomes]
rs17037025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61474216	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61701132	0.88[AFR][1000 genomes]
rs72876821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873999	chr2:47916074-48019485	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47983400-48009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:47991000-48009600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47993000-48009400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:47995600-48009000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:47995600-48009400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:47996400-48004400	Weak transcription	K562	blood
7	chr2:47999000-48009400	Weak transcription	HMEC	breast
8	chr2:47999000-48009400	Weak transcription	HUVEC	blood vessel
9	chr2:48002000-48009400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:48002200-48003800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:48002800-48006000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:48003000-48003800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:48003200-48004400	Enhancers	Ovary	ovary
14	chr2:48003400-48004800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:48003600-48004000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:48003600-48004400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:48003600-48004800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:48003600-48004800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:48003600-48005200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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