Variant report

Variant	rs1289219
Chromosome Location	chr5:103425067-103425068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103419555..103422324-chr5:103423618..103426898,4	K562	blood:
2	chr5:103424379..103427080-chr5:103428532..103430854,2	K562	blood:
3	chr5:103424304..103427061-chr5:103434256..103435929,2	K562	blood:
4	chr5:103424892..103429270-chr5:103431386..103433912,4	K562	blood:
5	chr5:103424892..103427295-chr5:103431386..103434334,3	K562	blood:

Variant related genes	Relation type
ENSG00000201910	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11960207	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12520119	0.99[ASN][1000 genomes]
rs12522020	0.98[ASN][1000 genomes]
rs12653636	0.93[ASN][1000 genomes]
rs1289165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1289166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1289169	0.91[ASN][1000 genomes]
rs1289170	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1289171	0.94[ASN][1000 genomes]
rs1289172	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1289185	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1289188	0.92[ASN][1000 genomes]
rs1289210	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1289212	0.92[ASN][1000 genomes]
rs1289214	0.92[ASN][1000 genomes]
rs1289218	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1289224	0.91[AMR][1000 genomes]
rs1296452	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1296454	0.87[AMR][1000 genomes]
rs13190616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1362697	0.92[ASN][1000 genomes]
rs1420864	0.93[ASN][1000 genomes]
rs1420865	0.93[ASN][1000 genomes]
rs1420866	0.89[ASN][1000 genomes]
rs1420867	0.89[ASN][1000 genomes]
rs1592631	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1592634	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1882562	0.89[ASN][1000 genomes]
rs1882563	0.89[ASN][1000 genomes]
rs1882564	0.89[ASN][1000 genomes]
rs1882565	0.89[ASN][1000 genomes]
rs1882566	0.89[ASN][1000 genomes]
rs1882567	0.89[ASN][1000 genomes]
rs1895020	0.88[ASN][1000 genomes]
rs1895021	0.89[ASN][1000 genomes]
rs1922505	0.89[ASN][1000 genomes]
rs1922506	0.89[ASN][1000 genomes]
rs1981768	0.89[ASN][1000 genomes]
rs1981769	0.89[ASN][1000 genomes]
rs1981770	0.89[ASN][1000 genomes]
rs1990749	0.89[ASN][1000 genomes]
rs2111431	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111432	0.99[ASN][1000 genomes]
rs2542083	0.89[ASN][1000 genomes]
rs2542084	0.89[ASN][1000 genomes]
rs2542085	0.89[ASN][1000 genomes]
rs2542086	0.89[ASN][1000 genomes]
rs2542087	0.89[ASN][1000 genomes]
rs2542088	0.89[ASN][1000 genomes]
rs2707382	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707404	0.89[ASN][1000 genomes]
rs2707405	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2707406	0.89[ASN][1000 genomes]
rs2707407	0.89[ASN][1000 genomes]
rs2707408	0.89[ASN][1000 genomes]
rs2707409	0.88[ASN][1000 genomes]
rs2707410	0.89[ASN][1000 genomes]
rs2707411	0.89[ASN][1000 genomes]
rs2707412	0.89[ASN][1000 genomes]
rs2952550	0.89[ASN][1000 genomes]
rs2952551	0.89[ASN][1000 genomes]
rs4703024	0.99[ASN][1000 genomes]
rs4703282	0.87[ASN][1000 genomes]
rs4703287	0.89[ASN][1000 genomes]
rs4703288	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4703289	0.89[ASN][1000 genomes]
rs62361872	0.87[ASN][1000 genomes]
rs6596559	0.81[ASN][1000 genomes]
rs6596560	0.82[ASN][1000 genomes]
rs7732790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025859	chr5:102744479-103710290	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537833	chr5:102744479-103710290	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv882524	chr5:103237745-104019292	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1027818	chr5:103318123-103445127	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1019939	chr5:103380722-103770101	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv537836	chr5:103380722-103770101	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1033278	chr5:103383207-103773361	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv882526	chr5:103390664-103478518	Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv462330	chr5:103406680-103533884	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv599201	chr5:103406680-103533884	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv462331	chr5:103408356-103472789	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv599202	chr5:103408356-103472789	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103424800-103425200	Flanking Active TSS	K562	blood
2	chr5:103425000-103425200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:103425000-103425200	Enhancers	NH-A	brain
4	chr5:103425000-103425400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:103425000-103425800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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