Variant report

Variant	rs56044723
Chromosome Location	chr5:112129070-112129071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112123801..112127041-chr5:112128309..112132302,4	K562	blood:
2	chr5:112126744..112130086-chr5:112131543..112134649,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11951746	1.00[AMR][1000 genomes]
rs17134881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134929	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135094	1.00[AMR][1000 genomes]
rs55838903	1.00[AMR][1000 genomes]
rs56004167	1.00[AMR][1000 genomes]
rs56224801	1.00[AMR][1000 genomes]
rs57076790	1.00[AMR][1000 genomes]
rs57186392	1.00[AMR][1000 genomes]
rs58659317	1.00[AMR][1000 genomes]
rs58929329	1.00[AMR][1000 genomes]
rs60959200	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61667491	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6875646	1.00[AMR][1000 genomes]
rs6876184	1.00[AMR][1000 genomes]
rs6895431	1.00[AMR][1000 genomes]
rs73214389	1.00[AMR][1000 genomes]
rs73214399	1.00[AMR][1000 genomes]
rs73216208	1.00[AMR][1000 genomes]
rs73216212	1.00[AMR][1000 genomes]
rs73216228	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216237	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216295	1.00[AMR][1000 genomes]
rs73216300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218131	1.00[AMR][1000 genomes]
rs73218137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218139	1.00[AMR][1000 genomes]
rs73218152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220040	1.00[AMR][1000 genomes]
rs73220042	1.00[AMR][1000 genomes]
rs73220045	1.00[AMR][1000 genomes]
rs73220047	1.00[AMR][1000 genomes]
rs73788579	1.00[AMR][1000 genomes]
rs73791429	1.00[AMR][1000 genomes]
rs73791483	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728137	1.00[AMR][1000 genomes]
rs7728636	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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112098200-112129800	Weak transcription	Spleen	Spleen
3	chr5:112098400-112130000	Weak transcription	Fetal Heart	heart
4	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
8	chr5:112104800-112130800	Weak transcription	Stomach Mucosa	stomach
9	chr5:112108200-112129200	Weak transcription	NH-A	brain
10	chr5:112108400-112130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:112115600-112134600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:112115800-112151200	Weak transcription	NHEK	skin
14	chr5:112116800-112129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:112117000-112130200	Weak transcription	K562	blood
16	chr5:112118200-112130200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:112118200-112136600	Weak transcription	Pancreas	Pancrea
18	chr5:112118200-112151200	Weak transcription	Gastric	stomach
19	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
20	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
21	chr5:112119000-112130200	Weak transcription	Fetal Kidney	kidney
22	chr5:112121000-112131000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:112122000-112132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:112123200-112130000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:112123200-112130200	Weak transcription	A549	lung
26	chr5:112123600-112141800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:112124000-112144800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:112125000-112130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:112125000-112131200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:112125000-112132000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:112125000-112140000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:112125400-112131400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:112125600-112130800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:112125600-112131000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:112125600-112132200	Strong transcription	Fetal Thymus	thymus
36	chr5:112125600-112134800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:112125800-112132000	Strong transcription	Primary T cells from cord blood	blood
38	chr5:112126200-112131000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:112126200-112131200	Strong transcription	Fetal Stomach	stomach
40	chr5:112126200-112131800	Strong transcription	Fetal Brain Female	brain
41	chr5:112126200-112132400	Strong transcription	Fetal Muscle Leg	muscle
42	chr5:112126400-112131600	Strong transcription	Fetal Lung	lung
43	chr5:112126400-112131600	Strong transcription	Dnd41	blood
44	chr5:112126600-112129800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:112126800-112130600	Strong transcription	Primary B cells from cord blood	blood
46	chr5:112126800-112131800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:112126800-112131800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr5:112126800-112132000	Strong transcription	Adipose Nuclei	Adipose
49	chr5:112126800-112132000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:112126800-112132200	Strong transcription	Duodenum Mucosa	Duodenum

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