Variant report

Variant	rs73734916
Chromosome Location	chr5:1784413-1784414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1769767..1771848-chr5:1781925..1784908,2	K562	blood:
2	chr5:1779811..1784236-chr5:1784390..1788657,7	K562	blood:
3	chr5:1780452..1785296-chr5:1786065..1791336,6	K562	blood:
4	chr5:1783117..1786082-chr5:1787015..1788776,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10037336	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045048	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051882	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058270	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062133	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070488	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078791	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085011	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475110	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475112	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475113	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505119	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361288	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884830	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901194	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28402979	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573163	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609097	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883061	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464685	0.84[EUR][1000 genomes]
rs58926651	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59515251	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6555013	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861074	1.00[ASN][1000 genomes]
rs6861795	1.00[ASN][1000 genomes]
rs6862138	1.00[ASN][1000 genomes]
rs6862330	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862520	1.00[ASN][1000 genomes]
rs6864000	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866992	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875087	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880349	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881623	0.81[EUR][1000 genomes]
rs6885220	1.00[ASN][1000 genomes]
rs6888753	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895439	0.89[EUR][1000 genomes]
rs6899016	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734940	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734941	1.00[ASN][1000 genomes]
rs7707424	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709350	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711522	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718031	1.00[ASN][1000 genomes]
rs7723998	1.00[ASN][1000 genomes]
rs7725178	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312955	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	esv3375698	chr5:1780852-1785050	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1772400-1788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1782000-1784600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:1782400-1785000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:1782800-1786600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:1783000-1787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:1783200-1784800	Enhancers	Fetal Heart	heart
7	chr5:1783600-1789000	Weak transcription	NH-A	brain
8	chr5:1783800-1786200	Enhancers	GM12878-XiMat	blood
9	chr5:1784000-1786200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr5:1784200-1786200	Enhancers	Fetal Thymus	thymus
11	chr5:1784400-1784600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:1784400-1784600	Flanking Active TSS	Spleen	Spleen

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