Variant report

Variant	rs12867444
Chromosome Location	chr13:110764407-110764408
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1373745	0.83[AMR][1000 genomes]
rs4000276	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4773123	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4773124	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4773125	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181831	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9515144	0.81[ASN][1000 genomes]
rs9555669	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9559737	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901005	chr13:110733102-110766350	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv563097	chr13:110742197-110766350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv563099	chr13:110749252-110778894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110760800-110766400	Weak transcription	Spleen	Spleen
2	chr13:110761600-110765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:110761600-110767800	Weak transcription	Lung	lung
4	chr13:110761800-110765400	Weak transcription	Right Ventricle	heart
5	chr13:110762000-110765800	Weak transcription	Hela-S3	cervix
6	chr13:110762000-110766000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:110762400-110764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:110762400-110765000	Weak transcription	NHEK	skin
9	chr13:110762400-110765200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:110762400-110765400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:110762600-110765200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:110762600-110765200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:110762600-110765200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:110762600-110765200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:110762600-110765400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr13:110762600-110765400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:110762600-110765400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:110762800-110765000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:110762800-110765200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:110762800-110765400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:110762800-110765400	Weak transcription	A549	lung
22	chr13:110762800-110765600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:110762800-110765800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:110762800-110765800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:110762800-110766000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:110762800-110766400	Weak transcription	Adipose Nuclei	Adipose
27	chr13:110763000-110765000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:110763000-110765000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:110763000-110765000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:110763000-110765000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:110763000-110765200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr13:110763000-110765200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:110763000-110765200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:110763000-110765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:110763000-110765200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:110763000-110765200	Weak transcription	Fetal Muscle Leg	muscle
37	chr13:110763000-110765200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:110763000-110765200	Weak transcription	Dnd41	blood
39	chr13:110763000-110765200	Weak transcription	HMEC	breast
40	chr13:110763000-110765200	Weak transcription	NH-A	brain
41	chr13:110763000-110765200	Weak transcription	Osteobl	bone
42	chr13:110763000-110765400	Weak transcription	Fetal Heart	heart
43	chr13:110763000-110765400	Weak transcription	Psoas Muscle	Psoas
44	chr13:110763000-110765400	Weak transcription	HSMM	muscle
45	chr13:110763000-110765400	Weak transcription	NHDF-Ad	bronchial
46	chr13:110763000-110765400	Weak transcription	NHLF	lung
47	chr13:110763000-110765800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:110763000-110766600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr13:110763000-110767200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:110763000-110772600	Weak transcription	Left Ventricle	heart

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