Variant report

Variant	rs56023848
Chromosome Location	chr5:112361929-112361930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41464794..41468593-chr5:112359198..112362218,8	MCF-7	breast:
2	chr11:62607617..62610650-chr5:112359197..112362197,3	K562	blood:
3	chr5:112356556..112358824-chr5:112361701..112363317,2	K562	blood:
4	chr5:112349384..112350972-chr5:112360644..112363312,2	MCF-7	breast:
5	chr17:41464595..41468045-chr5:112359196..112362218,12	K562	blood:
6	chr17:41398761..41400393-chr5:112359218..112362196,2	K562	blood:
7	chr17:41464180..41467892-chr5:112359196..112362218,12	K562	blood:
8	chr5:112361859..112364300-chr5:112370845..112373439,3	K562	blood:
9	chr17:41445379..41447099-chr5:112359216..112362198,2	K562	blood:
10	chr17:41398893..41402334-chr5:112359196..112362218,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12521395	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13185006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes]
rs17311019	1.00[AMR][1000 genomes]
rs17311096	1.00[AMR][1000 genomes]
rs17369211	1.00[AMR][1000 genomes]
rs17369487	1.00[AMR][1000 genomes]
rs17370550	0.89[AMR][1000 genomes]
rs4235775	1.00[EUR][1000 genomes]
rs4235776	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235781	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235783	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235785	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4260661	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4276396	1.00[EUR][1000 genomes]
rs4295378	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4519915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4627978	1.00[EUR][1000 genomes]
rs4705534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705535	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4705536	1.00[EUR][1000 genomes]
rs4705757	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705759	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705764	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705765	1.00[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes]
rs55901036	1.00[AMR][1000 genomes]
rs55940904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55997238	0.95[EUR][1000 genomes]
rs56265422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876839	1.00[AFR][1000 genomes]
rs6594657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594666	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594668	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6862944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6872473	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881426	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6881477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882115	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896675	0.95[EUR][1000 genomes]
rs6897972	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7706745	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7728495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
2	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
3	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
11	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
12	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
16	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
17	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
18	chr5:112339200-112362400	Weak transcription	Pancreas	Pancrea
19	chr5:112339400-112362000	Weak transcription	Gastric	stomach
20	chr5:112340400-112362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:112340400-112362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:112340400-112362600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:112342200-112362600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:112349800-112362400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:112349800-112366600	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:112350200-112362000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:112350200-112362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:112350200-112362600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:112350200-112362600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:112350200-112362600	Weak transcription	Brain Anterior Caudate	brain
31	chr5:112350200-112362800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:112350400-112362000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:112350400-112362400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:112350400-112362400	Weak transcription	Spleen	Spleen
35	chr5:112350400-112362600	Weak transcription	Fetal Brain Female	brain
36	chr5:112350400-112362600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:112350400-112362600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:112350600-112362400	Weak transcription	Brain Germinal Matrix	brain
39	chr5:112351200-112362600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:112352400-112367800	Strong transcription	Liver	Liver
41	chr5:112354400-112363000	Weak transcription	Fetal Kidney	kidney
42	chr5:112354600-112365400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:112356200-112362600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:112356200-112365000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:112356200-112365000	Strong transcription	Adipose Nuclei	Adipose
46	chr5:112356400-112365400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:112357000-112362600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:112357600-112364600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:112357800-112364400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:112358000-112364600	Strong transcription	NHDF-Ad	bronchial

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