Variant report

Variant	rs4423546
Chromosome Location	chr2:141543563-141543564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10191182	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021245	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1025337	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10928072	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10928073	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs10928074	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1120487	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1120488	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1124785	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11674928	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11677778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11678482	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11684411	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11686050	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11688766	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11694855	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11893770	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895991	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12614258	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12620422	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12621209	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12623466	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12691562	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12691571	0.89[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs1429330	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1429333	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1429369	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs17514829	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs17515225	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17515498	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs17515899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17516434	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17517552	0.86[CHB][hapmap]
rs17575847	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1843585	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1963394	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2046506	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2171173	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2380889	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3828265	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs4616417	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4954856	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4954860	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6429845	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6429846	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6716577	0.83[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6720709	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6720793	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs6722632	0.84[CHB][hapmap]
rs6735489	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs6749275	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs6749707	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs6755302	0.84[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6757066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7571628	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7571766	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7606602	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7606833	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs9287300	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875198	chr2:141409166-141571329	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv875199	chr2:141409166-141600366	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875201	chr2:141448312-141561255	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv875202	chr2:141448312-141587228	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv875203	chr2:141448312-141592252	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875204	chr2:141496596-141592252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875205	chr2:141500692-141592252	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv875206	chr2:141504719-141571329	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv875207	chr2:141517652-141592252	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141540600-141544000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:141542600-141544800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:141543200-141544600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:141543400-141544600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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