Variant report

Variant	rs73046737
Chromosome Location	chr5:14616234-14616235
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	chr5:14613981..14616531-chr5:14617641..14619876,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10072696	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13355896	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17296475	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17296541	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17362465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17571949	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2435064	0.93[EUR][1000 genomes]
rs3845281	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58401870	0.83[EUR][1000 genomes]
rs60087848	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046720	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73046727	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73046740	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046743	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046748	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14592000-14618400	Weak transcription	Hela-S3	cervix
2	chr5:14593200-14618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:14594400-14621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:14598200-14618200	Weak transcription	Thymus	Thymus
5	chr5:14598400-14619400	Weak transcription	Small Intestine	intestine
6	chr5:14598800-14616600	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:14598800-14617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:14598800-14618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:14599000-14616800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:14600000-14618000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:14601200-14618200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:14601400-14617000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr5:14602000-14621800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:14603600-14616600	Weak transcription	Liver	Liver
15	chr5:14604800-14618000	Weak transcription	Brain Germinal Matrix	brain
16	chr5:14605400-14618000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:14605600-14617400	Strong transcription	Primary T cells from cord blood	blood
18	chr5:14605600-14620000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:14606400-14617400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:14606800-14617400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:14607600-14618200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:14607800-14618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:14608000-14617800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:14608200-14618000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:14608800-14616800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr5:14608800-14617800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:14608800-14623000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:14609000-14619800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:14609200-14622800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:14610600-14621000	Weak transcription	Gastric	stomach
31	chr5:14610800-14616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:14610800-14620400	Weak transcription	Fetal Stomach	stomach
33	chr5:14610800-14624000	Weak transcription	Lung	lung
34	chr5:14611000-14618600	Weak transcription	Adipose Nuclei	Adipose
35	chr5:14611600-14620400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:14612200-14617200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:14612200-14623600	Weak transcription	Placenta	Placenta
38	chr5:14612600-14619200	Weak transcription	Pancreas	Pancrea
39	chr5:14613200-14621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:14613400-14616600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:14613600-14618200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:14614600-14616800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:14614600-14616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:14614600-14617800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:14614800-14616800	Strong transcription	Fetal Intestine Large	intestine
46	chr5:14614800-14617000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr5:14615200-14616800	Strong transcription	Fetal Brain Female	brain
48	chr5:14615200-14617200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr5:14615600-14617200	Weak transcription	Fetal Thymus	thymus
50	chr5:14615600-14617400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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