Variant report

Variant	rs73227370
Chromosome Location	chr5:112265447-112265448
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112257473..112261765-chr5:112262739..112268514,7	K562	blood:
2	chr5:112255808..112259712-chr5:112262639..112265626,6	MCF-7	breast:
3	chr5:112258023..112259796-chr5:112264291..112266888,2	K562	blood:
4	chr5:112262263..112263764-chr5:112265083..112267354,2	K562	blood:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10064080	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10515450	0.91[EUR][1000 genomes]
rs12188113	0.96[EUR][1000 genomes]
rs13354064	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13360667	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135193	0.91[ASN][1000 genomes]
rs17553240	0.96[EUR][1000 genomes]
rs1833560	0.86[ASN][1000 genomes]
rs28635838	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28789211	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3892986	0.83[ASN][1000 genomes]
rs3962814	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4145650	0.99[EUR][1000 genomes]
rs56364425	0.99[EUR][1000 genomes]
rs57749964	0.86[ASN][1000 genomes]
rs58775131	0.85[ASN][1000 genomes]
rs59349522	0.91[ASN][1000 genomes]
rs6864647	0.90[ASN][1000 genomes]
rs728344	0.83[ASN][1000 genomes]
rs728347	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73227382	0.86[ASN][1000 genomes]
rs73227383	0.83[ASN][1000 genomes]
rs73789251	0.94[EUR][1000 genomes]
rs73789266	0.99[EUR][1000 genomes]
rs7730241	0.85[ASN][1000 genomes]
rs7730441	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112259000-112267200	Weak transcription	Psoas Muscle	Psoas
3	chr5:112259000-112267200	Weak transcription	Right Atrium	heart
4	chr5:112259000-112269200	Weak transcription	Osteobl	bone
5	chr5:112259600-112267600	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:112260400-112267000	Weak transcription	K562	blood
7	chr5:112262200-112266000	Flanking Active TSS	GM12878-XiMat	blood
8	chr5:112262400-112265600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:112262400-112267400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:112262400-112267600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:112262400-112267800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:112262600-112267600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:112263000-112266000	Enhancers	Placenta	Placenta
14	chr5:112263000-112267400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:112263200-112266800	Enhancers	Dnd41	blood
16	chr5:112263200-112267600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:112263200-112268200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr5:112263400-112266600	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:112263400-112267400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:112263600-112267400	Enhancers	Fetal Thymus	thymus
21	chr5:112264000-112265600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:112264000-112267400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:112264200-112267400	Enhancers	Thymus	Thymus
24	chr5:112264400-112266400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:112264600-112265800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:112264800-112265800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:112264800-112266600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:112265000-112265600	Enhancers	Small Intestine	intestine
29	chr5:112265000-112265800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr5:112265000-112265800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:112265000-112266000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr5:112265200-112265600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr5:112265200-112265800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr5:112265200-112266400	Weak transcription	Spleen	Spleen
35	chr5:112265400-112265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:112265400-112265600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr5:112265400-112267200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:112265400-112267400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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