Variant report

Variant	rs9943143
Chromosome Location	chr1:209402115-209402116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10779504	0.81[CEU][hapmap]
rs10863763	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10863764	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119244	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11119245	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11119248	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320543	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1933616	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2788160	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4844466	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7550487	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209398600-209402200	Weak transcription	NHEK	skin
2	chr1:209398600-209402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:209400000-209402600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:209400200-209402200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:209400400-209402200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:209400800-209402200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:209400800-209404800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:209401400-209403600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:209401600-209402800	Weak transcription	Fetal Brain Male	brain
10	chr1:209401800-209402200	Weak transcription	HMEC	breast

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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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