Variant report

Variant	rs56312915
Chromosome Location	chr5:59089285-59089286
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..59087906-chr5:59088999..59091482,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1008709	0.98[ASN][1000 genomes]
rs1027747	0.95[ASN][1000 genomes]
rs10940649	0.99[ASN][1000 genomes]
rs1120533	0.87[ASN][1000 genomes]
rs11949859	0.87[EUR][1000 genomes]
rs11951422	0.87[ASN][1000 genomes]
rs11956684	0.85[ASN][1000 genomes]
rs12152908	0.84[EUR][1000 genomes]
rs12188131	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12523468	0.95[ASN][1000 genomes]
rs13168347	0.95[ASN][1000 genomes]
rs13173398	0.95[ASN][1000 genomes]
rs1362941	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1362942	0.88[EUR][1000 genomes]
rs1504984	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16877195	0.89[EUR][1000 genomes]
rs17310599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17311853	0.95[ASN][1000 genomes]
rs17311925	0.94[ASN][1000 genomes]
rs17369708	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17371174	0.94[ASN][1000 genomes]
rs17381695	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17381723	0.83[EUR][1000 genomes]
rs17382202	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17441217	0.84[EUR][1000 genomes]
rs17441825	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17742120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17742544	0.86[EUR][1000 genomes]
rs17743216	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17799161	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17830249	0.95[ASN][1000 genomes]
rs2067024	0.85[ASN][1000 genomes]
rs2164660	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28583502	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2898247	0.95[ASN][1000 genomes]
rs2938780	1.00[ASN][1000 genomes]
rs2938783	0.93[ASN][1000 genomes]
rs2938786	0.98[ASN][1000 genomes]
rs2963817	0.95[ASN][1000 genomes]
rs2963818	0.93[ASN][1000 genomes]
rs2963821	0.98[ASN][1000 genomes]
rs2963822	0.93[ASN][1000 genomes]
rs2963825	0.99[ASN][1000 genomes]
rs2963826	1.00[ASN][1000 genomes]
rs3111173	0.95[ASN][1000 genomes]
rs34380238	0.93[ASN][1000 genomes]
rs3898713	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4699943	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4700340	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4700342	0.95[ASN][1000 genomes]
rs55704150	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55868825	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56199003	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60204066	0.80[ASN][1000 genomes]
rs6885294	0.93[ASN][1000 genomes]
rs6897073	0.89[EUR][1000 genomes]
rs72751211	0.84[EUR][1000 genomes]
rs72751218	0.86[EUR][1000 genomes]
rs72751226	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72751229	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72751231	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72751232	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72751233	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72751234	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72751235	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72751237	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72751241	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72751244	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72751247	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72751250	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72751252	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72751264	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72751266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751270	0.98[ASN][1000 genomes]
rs72751273	0.93[ASN][1000 genomes]
rs72751280	0.95[ASN][1000 genomes]
rs72751283	0.95[ASN][1000 genomes]
rs72751285	0.93[ASN][1000 genomes]
rs72751288	0.93[ASN][1000 genomes]
rs72751293	0.84[ASN][1000 genomes]
rs72751296	0.80[ASN][1000 genomes]
rs72751298	0.80[ASN][1000 genomes]
rs756211	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs756212	0.95[EUR][1000 genomes]
rs7703963	0.94[ASN][1000 genomes]
rs7718249	0.85[ASN][1000 genomes]
rs7730821	0.87[ASN][1000 genomes]
rs986400	0.87[ASN][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59081800-59090200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr5:59082600-59089400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59086000-59090000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:59086000-59094800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:59086400-59090400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:59086400-59090800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:59086600-59090600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:59086600-59094600	Weak transcription	Right Atrium	heart
9	chr5:59086600-59095400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:59086800-59089800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:59086800-59089800	Weak transcription	Brain Anterior Caudate	brain
12	chr5:59086800-59095200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:59086800-59095400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:59087000-59089800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:59087000-59089800	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:59087000-59090000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:59087200-59089400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:59087200-59090600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:59087200-59092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:59087400-59094200	Weak transcription	HUVEC	blood vessel
21	chr5:59087400-59095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:59087400-59106000	Weak transcription	Aorta	Aorta
23	chr5:59087600-59090400	Enhancers	HMEC	breast
24	chr5:59087800-59090400	Enhancers	NHEK	skin
25	chr5:59087800-59094400	Weak transcription	Fetal Lung	lung
26	chr5:59088200-59089400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:59088200-59090000	Enhancers	Esophagus	oesophagus
28	chr5:59088200-59090400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:59088200-59090400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:59088400-59089800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:59088400-59090000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:59088400-59090000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:59088400-59090000	Flanking Active TSS	A549	lung
34	chr5:59088400-59090000	Enhancers	HSMM	muscle
35	chr5:59088400-59090000	Enhancers	Osteobl	bone
36	chr5:59088600-59089400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:59088600-59089400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:59088600-59089400	Enhancers	NHLF	lung
39	chr5:59088600-59089600	Weak transcription	Fetal Brain Male	brain
40	chr5:59088600-59089800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:59088600-59090000	Enhancers	NHDF-Ad	bronchial
42	chr5:59088800-59089800	Weak transcription	Brain Angular Gyrus	brain
43	chr5:59089000-59089400	Weak transcription	Fetal Brain Female	brain
44	chr5:59089000-59089800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:59089000-59090000	Enhancers	NH-A	brain
46	chr5:59089000-59091800	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:59089000-59094400	Enhancers	Hela-S3	cervix
48	chr5:59089200-59089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:59089200-59091600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:59089200-59091800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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