Variant report

Variant	rs28486031
Chromosome Location	chr14:64566636-64566637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10135310	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10146044	0.91[ASN][1000 genomes]
rs10149314	0.80[ASN][1000 genomes]
rs10149623	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17225625	0.81[ASN][1000 genomes]
rs57016672	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9323445	0.90[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
5	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
7	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:64542800-64574000	Weak transcription	HUVEC	blood vessel
9	chr14:64542800-64575400	Weak transcription	Hela-S3	cervix
10	chr14:64543000-64576400	Weak transcription	NHDF-Ad	bronchial
11	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:64547000-64573800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:64548400-64590800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:64549800-64570200	Weak transcription	Psoas Muscle	Psoas
15	chr14:64549800-64579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:64551800-64568200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:64554400-64576400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:64556600-64576400	Weak transcription	NHLF	lung
19	chr14:64557000-64577200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64557200-64581200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:64558600-64581600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:64560000-64569000	Weak transcription	Fetal Kidney	kidney
23	chr14:64560000-64572200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:64561600-64566800	Strong transcription	Placenta	Placenta
25	chr14:64561600-64582400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:64562800-64570600	Weak transcription	Fetal Thymus	thymus
27	chr14:64562800-64580200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:64563000-64570200	Weak transcription	NHEK	skin
30	chr14:64563200-64579600	Weak transcription	HSMM	muscle
31	chr14:64563400-64579600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:64563600-64568200	Weak transcription	Fetal Lung	lung
33	chr14:64565000-64568200	Weak transcription	Aorta	Aorta
34	chr14:64565000-64568600	Weak transcription	Pancreas	Pancrea
35	chr14:64565400-64568200	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:64565400-64568200	Weak transcription	Ovary	ovary
37	chr14:64565400-64568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:64565400-64568600	Weak transcription	Esophagus	oesophagus
39	chr14:64565400-64568600	Weak transcription	Right Ventricle	heart
40	chr14:64565400-64568800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:64565400-64570200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:64565400-64571800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:64565400-64574200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:64565400-64579600	Weak transcription	Spleen	Spleen
45	chr14:64565400-64580000	Weak transcription	Lung	lung
46	chr14:64565600-64568200	Weak transcription	Gastric	stomach
47	chr14:64565600-64568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:64565600-64568400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:64565600-64568600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:64565600-64568600	Weak transcription	Fetal Intestine Small	intestine

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