Variant report

Variant	rs56228037
Chromosome Location	chr5:108133642-108133643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs33940843	1.00[EUR][1000 genomes]
rs35990968	1.00[EUR][1000 genomes]
rs55745292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55769405	1.00[EUR][1000 genomes]
rs55790655	1.00[EUR][1000 genomes]
rs55792714	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913202	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56002991	1.00[EUR][1000 genomes]
rs56177783	1.00[AMR][1000 genomes]
rs56195269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264243	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56805665	1.00[EUR][1000 genomes]
rs56890521	1.00[AMR][1000 genomes]
rs56932426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57135232	1.00[EUR][1000 genomes]
rs58773536	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58862033	1.00[EUR][1000 genomes]
rs60392464	1.00[EUR][1000 genomes]
rs60862365	1.00[AMR][1000 genomes]
rs60944482	1.00[AMR][1000 genomes]
rs6859699	1.00[EUR][1000 genomes]
rs73780541	1.00[AMR][1000 genomes]
rs73780555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780557	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780561	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780569	1.00[AMR][1000 genomes]
rs73780571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780573	1.00[AMR][1000 genomes]
rs73780577	1.00[AMR][1000 genomes]
rs73780580	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780582	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780584	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780585	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780586	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780594	1.00[EUR][1000 genomes]
rs73780595	1.00[EUR][1000 genomes]
rs73780596	1.00[EUR][1000 genomes]
rs73780598	1.00[EUR][1000 genomes]
rs73780599	1.00[EUR][1000 genomes]
rs73780600	1.00[EUR][1000 genomes]
rs73780602	1.00[EUR][1000 genomes]
rs73781903	1.00[EUR][1000 genomes]
rs73781904	1.00[EUR][1000 genomes]
rs73781906	1.00[EUR][1000 genomes]
rs73781908	1.00[EUR][1000 genomes]
rs73781909	1.00[EUR][1000 genomes]
rs73781912	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:108112600-108137200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:108117800-108138200	Weak transcription	Liver	Liver
4	chr5:108118200-108136800	Weak transcription	NHLF	lung
5	chr5:108120000-108136800	Weak transcription	A549	lung
6	chr5:108120200-108137600	Weak transcription	Spleen	Spleen
7	chr5:108120200-108142200	Weak transcription	Aorta	Aorta
8	chr5:108120600-108146400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:108120800-108146400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:108121000-108138600	Weak transcription	Fetal Kidney	kidney
11	chr5:108121000-108139000	Weak transcription	Primary T cells from cord blood	blood
12	chr5:108121000-108139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:108121800-108137200	Weak transcription	HSMMtube	muscle
14	chr5:108123000-108138200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:108123400-108138200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:108123400-108139400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:108124000-108136000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:108124000-108137200	Weak transcription	HSMM	muscle
19	chr5:108124000-108138800	Weak transcription	Fetal Brain Male	brain
20	chr5:108124000-108139200	Weak transcription	Primary B cells from cord blood	blood
21	chr5:108124200-108135600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:108124200-108136000	Weak transcription	Right Ventricle	heart
23	chr5:108124200-108141600	Weak transcription	Pancreas	Pancrea
24	chr5:108124200-108141800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:108124200-108142800	Weak transcription	Ovary	ovary
26	chr5:108124400-108137200	Weak transcription	Fetal Brain Female	brain
27	chr5:108124400-108138200	Weak transcription	Brain Angular Gyrus	brain
28	chr5:108124400-108139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:108124600-108146600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:108124800-108149400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:108125200-108137800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:108125200-108139200	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:108125400-108135800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:108128400-108134400	Weak transcription	NH-A	brain
35	chr5:108128400-108134400	Weak transcription	NHEK	skin
36	chr5:108129000-108138200	Weak transcription	Placenta	Placenta
37	chr5:108129000-108138600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:108129400-108138200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:108131000-108134000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:108131000-108135600	Weak transcription	Fetal Intestine Small	intestine
41	chr5:108131000-108135800	Weak transcription	Brain Germinal Matrix	brain
42	chr5:108131400-108138600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:108132000-108137600	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:108132200-108134600	Weak transcription	Gastric	stomach
45	chr5:108132200-108135800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:108132200-108138600	Strong transcription	Fetal Lung	lung
47	chr5:108132400-108137000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:108132400-108138000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:108132400-108139600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:108132600-108135400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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