Variant report

Variant	rs56967744
Chromosome Location	chr5:59091753-59091754
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	chr5:59085744..59088656-chr5:59089982..59093707,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16890182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890222	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890233	0.90[AMR][1000 genomes]
rs1910790	0.90[AMR][1000 genomes]
rs55688667	0.90[AMR][1000 genomes]
rs55850390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56760334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6859488	0.90[AMR][1000 genomes]
rs6868567	0.90[AMR][1000 genomes]
rs73109078	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73109084	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73111026	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7719414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727369	1.00[AFR][1000 genomes];1.00[AMR][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	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59086000-59094800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:59086600-59094600	Weak transcription	Right Atrium	heart
3	chr5:59086600-59095400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:59086800-59095200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:59086800-59095400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:59087200-59092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:59087400-59094200	Weak transcription	HUVEC	blood vessel
8	chr5:59087400-59095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:59087400-59106000	Weak transcription	Aorta	Aorta
10	chr5:59087800-59094400	Weak transcription	Fetal Lung	lung
11	chr5:59089000-59091800	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:59089000-59094400	Enhancers	Hela-S3	cervix
13	chr5:59089200-59091800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:59089200-59091800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:59089400-59094600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:59089600-59092400	Enhancers	Fetal Brain Male	brain
17	chr5:59089800-59094400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:59089800-59095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:59090000-59092400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:59090000-59093600	Enhancers	A549	lung
21	chr5:59090000-59094600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:59090000-59094800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:59090000-59094800	Weak transcription	HSMM	muscle
24	chr5:59090000-59094800	Weak transcription	NH-A	brain
25	chr5:59090000-59094800	Weak transcription	NHDF-Ad	bronchial
26	chr5:59090000-59095400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:59090000-59095800	Weak transcription	Brain Substantia Nigra	brain
28	chr5:59090200-59091800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:59090200-59094600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:59090200-59094800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:59090200-59095200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:59090400-59094200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:59090400-59094400	Weak transcription	HMEC	breast
34	chr5:59090400-59094400	Weak transcription	NHEK	skin
35	chr5:59090400-59094600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:59090400-59094600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:59090400-59095000	Weak transcription	Fetal Brain Female	brain
38	chr5:59090600-59091800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:59090600-59092000	Enhancers	Primary B cells from peripheral blood	blood
40	chr5:59090600-59094600	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:59090600-59095600	Weak transcription	Brain Anterior Caudate	brain
42	chr5:59090800-59092200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:59091000-59094600	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:59091200-59092000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:59091400-59092400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:59091400-59096400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:59091600-59092000	Enhancers	Adipose Nuclei	Adipose

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