Variant report

Variant	rs17311019
Chromosome Location	chr5:112246920-112246921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112196178..112198372-chr5:112245314..112249155,3	K562	blood:
2	chr5:112044064..112046268-chr5:112246769..112248546,2	K562	blood:
3	chr5:112238334..112242783-chr5:112245993..112249269,4	K562	blood:
4	chr5:112246563..112249281-chr5:112250414..112253168,3	K562	blood:
5	chr5:112245836..112248204-chr5:112256620..112259021,3	K562	blood:

Variant related genes	Relation type
ENSG00000266499	Chromatin interaction
ENSG00000272869	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs12521395	0.89[AMR][1000 genomes]
rs13185006	1.00[AMR][1000 genomes]
rs17135067	0.93[EUR][1000 genomes]
rs17135193	0.86[EUR][1000 genomes]
rs17290064	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17311096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359859	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17360045	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17369211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17369487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17370550	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17371015	0.93[EUR][1000 genomes]
rs1833560	0.86[EUR][1000 genomes]
rs4235776	1.00[AMR][1000 genomes]
rs4235780	1.00[AMR][1000 genomes]
rs4235781	1.00[AMR][1000 genomes]
rs4235782	1.00[AMR][1000 genomes]
rs4235783	1.00[AMR][1000 genomes]
rs4235784	1.00[AMR][1000 genomes]
rs4235785	1.00[AMR][1000 genomes]
rs4260661	1.00[AMR][1000 genomes]
rs4295378	1.00[AMR][1000 genomes]
rs4519915	1.00[AMR][1000 genomes]
rs4705534	1.00[AMR][1000 genomes]
rs4705535	0.89[AMR][1000 genomes]
rs4705757	1.00[AMR][1000 genomes]
rs4705759	1.00[AMR][1000 genomes]
rs4705760	1.00[AMR][1000 genomes]
rs4705761	1.00[AMR][1000 genomes]
rs4705764	1.00[AMR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55771309	0.81[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901036	1.00[AMR][1000 genomes]
rs55940904	1.00[AMR][1000 genomes]
rs56023848	1.00[AMR][1000 genomes]
rs56155803	0.81[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56265422	1.00[AMR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56321569	0.93[EUR][1000 genomes]
rs56328836	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56405915	0.81[EUR][1000 genomes]
rs57043077	0.93[EUR][1000 genomes]
rs60532731	0.81[EUR][1000 genomes]
rs6594657	1.00[AMR][1000 genomes]
rs6594658	1.00[AMR][1000 genomes]
rs6594666	1.00[AMR][1000 genomes]
rs6594667	1.00[AMR][1000 genomes]
rs6594668	1.00[AMR][1000 genomes]
rs6862944	1.00[AMR][1000 genomes]
rs6872473	1.00[AMR][1000 genomes]
rs6881198	0.89[AMR][1000 genomes]
rs6881233	1.00[AMR][1000 genomes]
rs6881426	0.89[AMR][1000 genomes]
rs6881477	1.00[AMR][1000 genomes]
rs6882115	1.00[AMR][1000 genomes]
rs6897972	1.00[AMR][1000 genomes]
rs73220038	0.93[EUR][1000 genomes]
rs73220063	0.86[EUR][1000 genomes]
rs7706745	1.00[AMR][1000 genomes]
rs7728495	1.00[AMR][1000 genomes]
rs7728766	0.93[EUR][1000 genomes]
rs7730441	0.86[EUR][1000 genomes]
rs878074	1.00[AMR][1000 genomes]
rs878075	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
10	chr5:112224800-112250600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:112225000-112251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:112229600-112250000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:112230200-112251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112232600-112250200	Weak transcription	Stomach Mucosa	stomach
16	chr5:112234200-112249400	Weak transcription	Fetal Heart	heart
17	chr5:112237200-112249400	Weak transcription	K562	blood
18	chr5:112237400-112254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:112238200-112249600	Weak transcription	Brain Germinal Matrix	brain
20	chr5:112238200-112251600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:112238400-112251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:112238400-112252800	Weak transcription	Small Intestine	intestine
23	chr5:112238400-112253800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:112238600-112248400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112239000-112249200	Weak transcription	Hela-S3	cervix
26	chr5:112241200-112247000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:112241200-112250400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:112241400-112247000	Strong transcription	Osteobl	bone
29	chr5:112241400-112249200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:112241600-112247000	Strong transcription	Placenta	Placenta
31	chr5:112241800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:112241800-112248800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:112242000-112247000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:112242200-112247200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:112242200-112254200	Weak transcription	Fetal Kidney	kidney
36	chr5:112242400-112250200	Strong transcription	HSMM	muscle
37	chr5:112242400-112252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:112242600-112256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:112243000-112249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:112243200-112247800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:112243200-112248800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:112243200-112249600	Weak transcription	Right Atrium	heart
43	chr5:112243200-112249800	Weak transcription	Spleen	Spleen
44	chr5:112243200-112251400	Weak transcription	Brain Angular Gyrus	brain
45	chr5:112243200-112254000	Weak transcription	Fetal Brain Male	brain
46	chr5:112243400-112248000	Strong transcription	Adipose Nuclei	Adipose
47	chr5:112243400-112249800	Weak transcription	Lung	lung
48	chr5:112243400-112250200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:112243400-112252800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:112243800-112247000	Strong transcription	Fetal Muscle Leg	muscle

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