Variant report

Variant	rs2058419
Chromosome Location	chr7:117781781-117781782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117780592..117783227-chr7:117785006..117787831,2	K562	blood:
2	chr7:117780666..117783113-chr7:117815152..117816671,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10229271	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10487389	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10487393	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10487394	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10487395	0.85[ASN][1000 genomes]
rs1468283	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1468284	0.91[ASN][1000 genomes]
rs16873472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140792	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140796	0.83[ASN][1000 genomes]
rs17140797	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140886	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140956	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140962	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140972	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17141043	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17141056	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141102	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17141104	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17141125	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17141126	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17141127	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17141146	0.85[ASN][1000 genomes]
rs17141150	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17141165	0.85[ASN][1000 genomes]
rs17141173	0.85[ASN][1000 genomes]
rs17141175	0.85[ASN][1000 genomes]
rs2041529	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041530	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057684	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2057685	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2109858	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2402299	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34551547	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757797	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3757798	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4727860	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730841	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55759859	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6961495	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6972068	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6978482	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7786481	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2752146	chr7:117739049-117792049	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1016264	chr7:117739146-117792988	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761358	chr7:117739158-117793000	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv608260	chr7:117739400-117792838	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1028064	chr7:117740164-117792988	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv3428352	chr7:117754050-117783524	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv33380	chr7:117768471-117793477	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117779600-117792200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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