Variant report

Variant	rs72716311
Chromosome Location	chr14:64000689-64000690
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63997939..64001062-chr14:64009118..64011894,3	K562	blood:
2	chr14:63999915..64003407-chr14:64007730..64011074,4	MCF-7	breast:
3	chr14:63999199..64001169-chr14:64010326..64011894,2	K562	blood:

Variant related genes	Relation type
ENSG00000154001	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1255634	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17101287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28894732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72714300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72716303	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716310	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72716317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716321	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72716326	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63951000-64003200	Weak transcription	Ovary	ovary
2	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
4	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
5	chr14:63971200-64000800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:63972200-64003400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:63972400-64002800	Weak transcription	HMEC	breast
8	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
9	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
10	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:63975600-64005800	Weak transcription	K562	blood
12	chr14:63977200-64002400	Weak transcription	HSMM	muscle
13	chr14:63979200-64002600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:63980800-64008000	Weak transcription	Small Intestine	intestine
15	chr14:63981600-64002800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:63981800-64003200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:63981800-64004400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:63981800-64008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:63982000-64001600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:63982000-64002800	Weak transcription	HUVEC	blood vessel
21	chr14:63983400-64002800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:63983600-64000800	Weak transcription	Osteobl	bone
23	chr14:63983600-64003000	Weak transcription	Hela-S3	cervix
24	chr14:63983600-64003000	Weak transcription	NH-A	brain
25	chr14:63983600-64003200	Weak transcription	NHDF-Ad	bronchial
26	chr14:63984400-64002000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:63986400-64000800	Weak transcription	Placenta	Placenta
28	chr14:63987600-64000800	Weak transcription	NHEK	skin
29	chr14:63988400-64002800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:63988800-64008200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:63990000-64008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:63991000-64003200	Weak transcription	Liver	Liver
33	chr14:63991000-64004600	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:63991200-64003000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:63991200-64003400	Weak transcription	Brain Germinal Matrix	brain
36	chr14:63991200-64006000	Weak transcription	Fetal Kidney	kidney
37	chr14:63991400-64003200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:63991400-64007800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:63991600-64002800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:63991600-64003000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:63991600-64003000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:63991600-64003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:63991600-64004400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:63991600-64004800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:63991600-64008200	Weak transcription	Colonic Mucosa	Colon
46	chr14:63991800-64004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:63991800-64004600	Weak transcription	Left Ventricle	heart
48	chr14:63991800-64008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:63991800-64008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:63991800-64008800	Weak transcription	Gastric	stomach

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