Variant report

Variant	rs72728502
Chromosome Location	chr14:71935599-71935600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11624555	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11626368	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11627196	0.86[EUR][1000 genomes]
rs55881312	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56169848	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56333151	0.82[EUR][1000 genomes]
rs72728459	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71915800-71938600	Weak transcription	Small Intestine	intestine
2	chr14:71921800-71940600	Weak transcription	Spleen	Spleen
3	chr14:71922200-71944600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:71925800-71940600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:71927200-71938600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:71927200-71940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:71927600-71938800	Weak transcription	NHEK	skin
8	chr14:71927800-71938800	Weak transcription	HMEC	breast
9	chr14:71928000-71939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:71928000-71940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:71928000-71940600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:71928000-71944800	Weak transcription	Primary B cells from cord blood	blood
13	chr14:71929200-71964200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:71930200-71954200	Weak transcription	Gastric	stomach
15	chr14:71930200-71955600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:71930800-71938200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:71931000-71936600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:71931000-71938600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:71931200-71948800	Weak transcription	Aorta	Aorta
20	chr14:71931600-71938200	Enhancers	Hela-S3	cervix
21	chr14:71931800-71935600	Enhancers	NHDF-Ad	bronchial
22	chr14:71933200-71936000	Enhancers	Osteobl	bone
23	chr14:71933200-71938200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:71933400-71936000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:71934000-71940400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:71934200-71937400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:71934200-71940200	Weak transcription	Brain Germinal Matrix	brain
28	chr14:71934200-71941400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:71934400-71946400	Weak transcription	Adipose Nuclei	Adipose
30	chr14:71934600-71935800	Weak transcription	Fetal Heart	heart
31	chr14:71934600-71938800	Weak transcription	Fetal Lung	lung
32	chr14:71934600-71940800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:71934800-71935600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:71934800-71937200	Enhancers	Brain Anterior Caudate	brain
35	chr14:71934800-71937600	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:71934800-71937800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:71934800-71938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:71934800-71938800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:71934800-71939200	Weak transcription	HSMM	muscle
40	chr14:71934800-71939200	Weak transcription	NH-A	brain
41	chr14:71935000-71935800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:71935000-71935800	Enhancers	Brain Substantia Nigra	brain
43	chr14:71935000-71938600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:71935200-71936400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:71935400-71935800	Enhancers	Brain Angular Gyrus	brain
46	chr14:71935400-71935800	Active TSS	Brain Hippocampus Middle	brain
47	chr14:71935400-71935800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr14:71935400-71936200	Strong transcription	Primary T cells from cord blood	blood
49	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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