Variant report

Variant	rs17483325
Chromosome Location	chr4:21571755-21571756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10012127	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11725627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736523	0.93[CEU][hapmap]
rs12504857	1.00[CEU][hapmap]
rs1532785	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17485906	0.93[CEU][hapmap]
rs17557761	0.94[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs2323071	0.94[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs28697050	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57084368	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6832570	1.00[ASN][1000 genomes]
rs7664834	1.00[CEU][hapmap]
rs7680915	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[MEX][hapmap]
rs9631703	0.86[EUR][1000 genomes]
rs9993770	0.87[EUR][1000 genomes]
rs9994753	0.94[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv829879	chr4:21418568-21611002	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv998481	chr4:21421945-21608805	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv829880	chr4:21492426-21693816	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv997742	chr4:21515920-21575213	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1002353	chr4:21518045-21575213	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv1001219	chr4:21518045-21580423	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
8	esv2760860	chr4:21518045-21580435	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
9	nsv525271	chr4:21519577-21575623	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	nsv470019	chr4:21519577-21576754	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	nsv593805	chr4:21519577-21576754	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv461288	chr4:21562013-21575623	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv593807	chr4:21562013-21575623	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv593808	chr4:21566178-21577089	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21570600-21571800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr4:21570800-21571800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:21571200-21571800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:21571200-21571800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:21571400-21577600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:21571600-21572600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:21571600-21575400	Weak transcription	iPS-18 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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