Variant report

Variant	rs548145
Chromosome Location	chr2:21291312-21291313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs312944	1.00[ASN][1000 genomes]
rs34872576	1.00[ASN][1000 genomes]
rs34916112	1.00[ASN][1000 genomes]
rs478588	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503105	0.81[EUR][1000 genomes]
rs515135	0.98[EUR][1000 genomes]
rs541041	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562338	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563290	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580889	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614303	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668948	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672889	1.00[ASN][1000 genomes]
rs67332771	1.00[ASN][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21289600-21291400	Enhancers	Fetal Intestine Large	intestine
2	chr2:21290000-21293600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:21290200-21291600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:21290200-21291600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:21290200-21292200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:21290800-21291600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:21290800-21291600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:21290800-21291600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:21290800-21291600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:21290800-21292200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:21291000-21291400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:21291000-21292600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:21291000-21292800	Enhancers	HepG2	liver
14	chr2:21291200-21291400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:21291200-21291400	Enhancers	HUVEC	blood vessel
16	chr2:21291200-21292800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:21291200-21292800	Weak transcription	Fetal Intestine Small	intestine

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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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