Variant report

Variant	rs73127593
Chromosome Location	chr5:76008926-76008927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76008537..76011393-chr5:76015076..76017245,2	K562	blood:
2	chr5:76003087..76005831-chr5:76008202..76010428,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17681908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2227746	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2227748	0.83[AFR][1000 genomes]
rs2227749	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2227753	0.82[ASN][1000 genomes]
rs2227757	0.86[ASN][1000 genomes]
rs61370375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61557265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73127576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73127579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73127582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127587	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127597	0.89[AFR][1000 genomes];1.00[AMR][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75988800-76011000	Weak transcription	Lung	lung
2	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:75997200-76010400	Weak transcription	HepG2	liver
5	chr5:75997800-76010000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:75997800-76010800	Weak transcription	Gastric	stomach
7	chr5:75997800-76010800	Weak transcription	Pancreas	Pancrea
8	chr5:75998200-76010000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:75998400-76010800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:75998600-76009200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:75998600-76010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:75998600-76010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:75999600-76010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:76001800-76010200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:76003000-76010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:76004400-76010000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:76004600-76010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:76004600-76010400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:76004800-76010600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:76005000-76009000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:76005000-76010400	Weak transcription	Placenta	Placenta
22	chr5:76005200-76010000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:76005200-76010600	Weak transcription	Liver	Liver
24	chr5:76005600-76009200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:76005800-76010000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:76006200-76010600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:76007400-76010400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:76007600-76010000	Weak transcription	NHDF-Ad	bronchial
29	chr5:76007600-76010400	Weak transcription	Fetal Stomach	stomach
30	chr5:76007600-76010400	Weak transcription	NH-A	brain
31	chr5:76007600-76011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:76007600-76011000	Weak transcription	NHLF	lung
33	chr5:76007800-76010000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:76007800-76010000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:76008200-76010800	Weak transcription	HMEC	breast

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