Variant report

Variant	rs269046
Chromosome Location	chr1:57870564-57870565
allele	A/C
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:8)

rs_ID	r²[population]
rs1240441	1.00[AMR][1000 genomes]
rs1646766	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs267648	1.00[AMR][1000 genomes]
rs267649	1.00[AMR][1000 genomes]
rs267652	1.00[YRI][hapmap]
rs269040	1.00[AMR][1000 genomes]
rs269052	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs681946	1.00[AMR][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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:57860400-57874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:57862400-57870800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:57862400-57873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57863800-57875400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:57864400-57873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:57866600-57870600	Weak transcription	Stomach Mucosa	stomach
7	chr1:57867400-57872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:57867600-57874400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:57867800-57874600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:57867800-57875400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:57868000-57873600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:57870000-57871400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:57870400-57870800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:57870400-57874800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:57870400-57874800	Enhancers	Fetal Brain Male	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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