Variant report

Variant	rs72727502
Chromosome Location	chr14:68991941-68991942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68990548..68993032-chr14:69095034..69097852,2	MCF-7	breast:
2	chr14:68990794..68994075-chr14:69256455..69260885,5	MCF-7	breast:
3	chr14:68715321..68716856-chr14:68989735..68992199,2	MCF-7	breast:
4	chr14:68987292..68989067-chr14:68991224..68994887,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000259038	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10130177	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134240	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137367	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147979	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148391	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483810	1.00[ASN][1000 genomes]
rs10483811	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849344	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105810	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105812	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105828	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105829	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377700	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454359	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492919	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558877	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28671277	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59404246	1.00[ASN][1000 genomes]
rs6573841	0.87[EUR][1000 genomes]
rs72729521	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016149	0.83[EUR][1000 genomes]
rs8017678	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323515	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68985800-68994800	Weak transcription	Aorta	Aorta
2	chr14:68986000-68993400	Weak transcription	Brain Angular Gyrus	brain
3	chr14:68986400-68993000	Weak transcription	NH-A	brain
4	chr14:68987400-68993600	Enhancers	HSMM	muscle
5	chr14:68987400-68996200	Enhancers	Pancreas	Pancrea
6	chr14:68987600-68992000	Enhancers	NHLF	lung
7	chr14:68987600-68993400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:68988200-68992000	Enhancers	NHDF-Ad	bronchial
9	chr14:68988200-68993600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:68988400-68993400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:68988600-68993800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:68988800-68993400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:68989000-68993000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:68989200-68993200	Weak transcription	Psoas Muscle	Psoas
15	chr14:68989400-68993000	Weak transcription	A549	lung
16	chr14:68989600-68993000	Weak transcription	Stomach Mucosa	stomach
17	chr14:68989600-68993000	Weak transcription	HMEC	breast
18	chr14:68989600-68993200	Weak transcription	Gastric	stomach
19	chr14:68989800-68993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:68989800-68993800	Weak transcription	Primary B cells from cord blood	blood
21	chr14:68990000-68994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:68990000-68995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:68990000-68995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:68990000-68996000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:68990200-68993200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:68990200-68993200	Weak transcription	Brain Anterior Caudate	brain
27	chr14:68990200-68993200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:68990200-68993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:68990200-68993400	Weak transcription	Right Ventricle	heart
30	chr14:68990200-68993800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:68990200-68993800	Enhancers	HSMMtube	muscle
32	chr14:68990400-68992000	Weak transcription	Primary T cells from cord blood	blood
33	chr14:68990400-68993000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:68990400-68993200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:68990400-68993200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:68990400-68993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:68990600-68992000	Enhancers	Fetal Intestine Large	intestine
38	chr14:68990800-68993000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr14:68991000-68993000	Weak transcription	Liver	Liver
40	chr14:68991000-68993200	Weak transcription	Brain Substantia Nigra	brain
41	chr14:68991000-68993200	Weak transcription	Left Ventricle	heart
42	chr14:68991200-68992800	Weak transcription	Osteobl	bone
43	chr14:68991200-68993000	Weak transcription	NHEK	skin
44	chr14:68991200-68993200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:68991200-68993400	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:68991200-68994000	Weak transcription	Fetal Lung	lung
47	chr14:68991400-68992200	Weak transcription	Ovary	ovary
48	chr14:68991400-68992600	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr14:68991400-68992800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:68991400-68992800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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