Variant report

Variant	rs4563648
Chromosome Location	chr5:95265556-95265557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95261849..95263612-chr5:95264702..95267235,2	MCF-7	breast:
2	chr5:95265302..95267698-chr5:95294461..95297744,3	K562	blood:
3	chr5:95265302..95267698-chr5:95294461..95296344,2	K562	blood:
4	chr5:95256084..95258584-chr5:95264436..95266158,3	K562	blood:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10035477	0.90[EUR][1000 genomes]
rs10052503	0.83[ASN][1000 genomes]
rs10069748	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10070197	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1043381	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1057963	0.91[EUR][1000 genomes]
rs1057964	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11135442	0.90[EUR][1000 genomes]
rs11738768	0.91[EUR][1000 genomes]
rs11739652	0.91[EUR][1000 genomes]
rs11741563	0.89[EUR][1000 genomes]
rs11741590	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11744881	0.91[EUR][1000 genomes]
rs12055262	0.85[ASN][1000 genomes]
rs13361341	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13361837	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1423268	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1423269	0.94[EUR][1000 genomes]
rs1458017	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1458018	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1458019	0.94[EUR][1000 genomes]
rs17085231	0.90[EUR][1000 genomes]
rs17085249	0.91[EUR][1000 genomes]
rs17085266	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1841010	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2015159	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2042340	0.91[EUR][1000 genomes]
rs2161318	0.83[ASN][1000 genomes]
rs2270554	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2348984	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2546191	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2546199	0.83[ASN][1000 genomes]
rs2547997	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2548594	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2829	0.94[EUR][1000 genomes]
rs3756703	0.85[ASN][1000 genomes]
rs3777162	0.83[ASN][1000 genomes]
rs3777163	0.83[ASN][1000 genomes]
rs3777178	0.83[ASN][1000 genomes]
rs3777182	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777183	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777184	0.94[EUR][1000 genomes]
rs3777185	0.94[EUR][1000 genomes]
rs3777188	0.94[EUR][1000 genomes]
rs3777189	0.94[EUR][1000 genomes]
rs3777190	0.94[EUR][1000 genomes]
rs3777192	0.94[EUR][1000 genomes]
rs3777193	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777194	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777196	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777197	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777200	0.91[EUR][1000 genomes]
rs3777201	0.91[EUR][1000 genomes]
rs3777202	0.91[EUR][1000 genomes]
rs3777203	0.91[EUR][1000 genomes]
rs3777204	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777208	0.87[EUR][1000 genomes]
rs3815768	0.91[EUR][1000 genomes]
rs3822750	0.83[ASN][1000 genomes]
rs4642392	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55841351	0.82[ASN][1000 genomes]
rs56156268	0.89[EUR][1000 genomes]
rs56219066	0.91[EUR][1000 genomes]
rs57595413	0.83[ASN][1000 genomes]
rs58921760	0.85[ASN][1000 genomes]
rs6556893	0.90[EUR][1000 genomes]
rs6556894	0.83[ASN][1000 genomes]
rs6861531	0.85[ASN][1000 genomes]
rs6877329	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6877821	0.83[ASN][1000 genomes]
rs6879652	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6881355	0.85[ASN][1000 genomes]
rs6885567	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6889029	0.94[EUR][1000 genomes]
rs6890954	0.90[EUR][1000 genomes]
rs6894651	0.83[ASN][1000 genomes]
rs6897997	0.85[ASN][1000 genomes]
rs6898371	0.83[ASN][1000 genomes]
rs6898399	0.83[ASN][1000 genomes]
rs72656689	0.85[ASN][1000 genomes]
rs7700895	0.85[ASN][1000 genomes]
rs7702674	0.91[EUR][1000 genomes]
rs7716691	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs889302	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9314162	0.94[EUR][1000 genomes]
rs967546	0.91[EUR][1000 genomes]
rs9986236	0.93[EUR][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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
3	chr5:95243400-95278800	Weak transcription	Lung	lung
4	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
6	chr5:95249800-95271600	Weak transcription	NH-A	brain
7	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:95252400-95266400	Weak transcription	HSMMtube	muscle
9	chr5:95253800-95272400	Weak transcription	Placenta	Placenta
10	chr5:95254600-95266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:95257400-95266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:95257400-95276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:95259400-95266800	Weak transcription	Aorta	Aorta
14	chr5:95259400-95271400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:95259400-95271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:95259400-95273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:95259400-95274600	Weak transcription	Psoas Muscle	Psoas
18	chr5:95259800-95270000	Weak transcription	Right Ventricle	heart
19	chr5:95260000-95272200	Weak transcription	Left Ventricle	heart
20	chr5:95260000-95280600	Weak transcription	Esophagus	oesophagus
21	chr5:95260800-95273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:95260800-95295200	Weak transcription	Primary T cells from cord blood	blood
23	chr5:95261200-95265800	Weak transcription	Brain Anterior Caudate	brain
24	chr5:95261400-95266800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:95261400-95266800	Weak transcription	A549	lung
26	chr5:95261600-95266000	Weak transcription	HMEC	breast
27	chr5:95261600-95271200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:95261800-95271600	Weak transcription	Adipose Nuclei	Adipose
29	chr5:95262000-95265800	Weak transcription	Osteobl	bone
30	chr5:95262000-95266000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:95262200-95266600	Weak transcription	Brain Angular Gyrus	brain
32	chr5:95262200-95272400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:95262200-95295400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:95262600-95271400	Weak transcription	Primary B cells from cord blood	blood
35	chr5:95263600-95266000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:95263800-95266200	Genic enhancers	HepG2	liver
37	chr5:95263800-95266600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:95263800-95278400	Weak transcription	Colonic Mucosa	Colon
39	chr5:95264200-95268600	Strong transcription	HSMM	muscle
40	chr5:95264200-95269200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:95264200-95271600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:95264400-95265800	Weak transcription	Brain Substantia Nigra	brain
43	chr5:95264400-95266400	Weak transcription	NHLF	lung
44	chr5:95264400-95266600	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:95264600-95266000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr5:95264600-95267000	Weak transcription	Fetal Heart	heart
47	chr5:95264600-95267000	Enhancers	Fetal Thymus	thymus
48	chr5:95264600-95267200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:95264800-95266000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:95264800-95266200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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