Variant report

Variant	rs12588891
Chromosome Location	chr14:69336547-69336548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTN1-1	chr14:69336447-69336668	NONHSAT037497

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12590404	0.84[EUR][1000 genomes]
rs1475033	0.83[ASN][1000 genomes]
rs17106441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181472	0.82[ASN][1000 genomes]
rs7149926	0.83[EUR][1000 genomes];0.89[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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
2	chr14:69321200-69338000	Weak transcription	Gastric	stomach
3	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:69324800-69338600	Weak transcription	HepG2	liver
6	chr14:69328200-69336600	Weak transcription	HMEC	breast
7	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
8	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
10	chr14:69330200-69338000	Weak transcription	Hela-S3	cervix
11	chr14:69330200-69338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:69330200-69348200	Weak transcription	K562	blood
13	chr14:69331200-69338200	Weak transcription	Colonic Mucosa	Colon
14	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
16	chr14:69332600-69336600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:69332600-69337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:69332800-69336600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:69332800-69336800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:69332800-69337600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:69332800-69337600	Weak transcription	Fetal Intestine Small	intestine
22	chr14:69332800-69337600	Weak transcription	Fetal Stomach	stomach
23	chr14:69332800-69337800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:69332800-69337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:69332800-69337800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:69332800-69337800	Weak transcription	A549	lung
27	chr14:69332800-69338000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:69332800-69338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:69332800-69338000	Weak transcription	Liver	Liver
30	chr14:69332800-69338000	Weak transcription	HUVEC	blood vessel
31	chr14:69332800-69338000	Weak transcription	NHEK	skin
32	chr14:69332800-69338200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:69332800-69338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:69332800-69338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:69332800-69338200	Weak transcription	Esophagus	oesophagus
36	chr14:69332800-69338600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:69333000-69338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:69333000-69338400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:69333200-69337400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:69333200-69337600	Weak transcription	Aorta	Aorta
41	chr14:69333400-69337600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:69333400-69337600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:69333400-69337800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:69333800-69336600	Weak transcription	Adipose Nuclei	Adipose
45	chr14:69334000-69337800	Weak transcription	NHDF-Ad	bronchial
46	chr14:69334000-69349600	Weak transcription	Fetal Kidney	kidney
47	chr14:69334000-69350800	Strong transcription	NH-A	brain
48	chr14:69334200-69337800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:69334200-69346400	Weak transcription	Stomach Mucosa	stomach
50	chr14:69334400-69337400	Weak transcription	Fetal Muscle Trunk	muscle

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