Variant report

Variant	rs269052
Chromosome Location	chr1:57866377-57866378
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

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]
rs169100	1.00[MEX][hapmap]
rs17116089	1.00[ASW][hapmap]
rs192393	1.00[MEX][hapmap]
rs197623	1.00[MEX][hapmap]
rs197628	1.00[MEX][hapmap]
rs267648	1.00[AMR][1000 genomes]
rs267649	1.00[AMR][1000 genomes]
rs267652	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs269040	1.00[AMR][1000 genomes]
rs269046	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269060	1.00[MEX][hapmap]
rs486804	1.00[MEX][hapmap]
rs523282	1.00[MEX][hapmap]
rs539257	1.00[MEX][hapmap]
rs579188	1.00[MEX][hapmap]
rs681946	1.00[AMR][1000 genomes]
rs7555442	1.00[MEX][hapmap]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57858000-57868600	Weak transcription	Fetal Brain Male	brain
2	chr1:57860400-57874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57862400-57870800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57862400-57873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57863800-57875400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:57864000-57867200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:57864000-57867400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:57864200-57867200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:57864200-57867200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:57864400-57873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:57864600-57867200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:57865400-57867600	Enhancers	HepG2	liver
13	chr1:57865600-57866400	Enhancers	Liver	Liver
14	chr1:57865600-57866400	Enhancers	Fetal Intestine Small	intestine
15	chr1:57865600-57866600	Enhancers	Stomach Mucosa	stomach
16	chr1:57866200-57867200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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