Variant report

Variant	rs72878497
Chromosome Location	chr4:95540953-95540954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95540920..95543603-chr4:95558219..95560946,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10516949	1.00[EUR][1000 genomes]
rs11934623	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11943494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17021743	1.00[EUR][1000 genomes]
rs17021819	1.00[EUR][1000 genomes]
rs17021820	1.00[EUR][1000 genomes]
rs17021884	1.00[EUR][1000 genomes]
rs17021906	1.00[EUR][1000 genomes]
rs4392514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56955132	1.00[EUR][1000 genomes]
rs57569167	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57981938	1.00[EUR][1000 genomes]
rs60223269	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61477568	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61628216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6825392	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6825799	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6826138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6849063	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6851080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878415	1.00[EUR][1000 genomes]
rs72878481	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878484	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878499	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880403	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880404	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880405	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880406	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880407	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890410	1.00[EUR][1000 genomes]
rs7684833	1.00[EUR][1000 genomes]
rs9992701	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
4	chr4:95497400-95542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:95507200-95548200	Weak transcription	Psoas Muscle	Psoas
6	chr4:95507200-95548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:95511200-95554800	Weak transcription	NHDF-Ad	bronchial
8	chr4:95514400-95544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:95514600-95542600	Weak transcription	NHEK	skin
10	chr4:95515000-95562000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:95521600-95544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:95525000-95569600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:95525000-95590000	Weak transcription	Lung	lung
15	chr4:95525400-95562200	Weak transcription	NHLF	lung
16	chr4:95526600-95544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:95526800-95551000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
19	chr4:95528000-95555000	Weak transcription	Aorta	Aorta
20	chr4:95532400-95544600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:95532600-95544200	Weak transcription	HMEC	breast
22	chr4:95533800-95594200	Weak transcription	Gastric	stomach
23	chr4:95536400-95541400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:95537000-95563000	Weak transcription	K562	blood
25	chr4:95537600-95573400	Weak transcription	Spleen	Spleen
26	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
27	chr4:95538000-95542000	Strong transcription	Left Ventricle	heart
28	chr4:95538000-95585200	Weak transcription	Colonic Mucosa	Colon
29	chr4:95538200-95541600	Strong transcription	Placenta	Placenta
30	chr4:95538200-95542600	Weak transcription	Fetal Kidney	kidney
31	chr4:95538200-95555200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:95538200-95582600	Weak transcription	Hela-S3	cervix
33	chr4:95538200-95586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:95538400-95541600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:95538400-95541600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:95538400-95545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:95538600-95541200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:95538600-95541400	Strong transcription	NH-A	brain
39	chr4:95538600-95541600	Strong transcription	Right Ventricle	heart
40	chr4:95538600-95542000	Strong transcription	Fetal Intestine Small	intestine
41	chr4:95538600-95587000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:95538800-95541800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:95538800-95542400	Weak transcription	Dnd41	blood
44	chr4:95538800-95543600	Weak transcription	GM12878-XiMat	blood
45	chr4:95538800-95546600	Strong transcription	Osteobl	bone
46	chr4:95538800-95547800	Weak transcription	Brain Angular Gyrus	brain
47	chr4:95539000-95541200	Strong transcription	HUVEC	blood vessel
48	chr4:95539000-95541400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:95539000-95541400	Strong transcription	Adipose Nuclei	Adipose
50	chr4:95539000-95541400	Strong transcription	Rectal Mucosa Donor 29	rectum

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