Variant report

Variant	rs12520427
Chromosome Location	chr5:113144180-113144181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12518007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482363	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135987	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136008	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416336	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6594758	1.00[ASN][1000 genomes]
rs6594759	1.00[ASN][1000 genomes]
rs6874396	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881008	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462390	chr5:113076095-113181289	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv471041	chr5:113076095-113181289	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv599408	chr5:113076095-113181289	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv432799	chr5:113077017-113150101	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv599409	chr5:113079354-113184211	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1018938	chr5:113080567-113185361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1027940	chr5:113091513-113185361	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv599410	chr5:113134734-113180637	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv462391	chr5:113134734-113184211	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv599411	chr5:113134734-113184211	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113141400-113144200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:113141400-113144400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:113141600-113146400	Enhancers	Fetal Stomach	stomach
4	chr5:113141800-113144200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:113141800-113144800	Enhancers	Fetal Lung	lung
6	chr5:113142000-113144600	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:113142000-113144800	Enhancers	Fetal Brain Male	brain
8	chr5:113142200-113144200	Enhancers	Fetal Muscle Leg	muscle
9	chr5:113142400-113144200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr5:113143000-113144200	Weak transcription	Fetal Intestine Small	intestine
11	chr5:113143000-113144200	Enhancers	Right Atrium	heart
12	chr5:113143400-113144200	Enhancers	Brain Germinal Matrix	brain
13	chr5:113143600-113144200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:113143600-113144800	Enhancers	NHDF-Ad	bronchial
15	chr5:113143600-113145200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:113143800-113144600	Enhancers	Fetal Brain Female	brain
17	chr5:113143800-113145000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:113143800-113145800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:113144000-113144200	Enhancers	Aorta	Aorta
20	chr5:113144000-113144200	Enhancers	Ovary	ovary
21	chr5:113144000-113144400	Enhancers	Fetal Kidney	kidney
22	chr5:113144000-113144600	Enhancers	Stomach Smooth Muscle	stomach
23	chr5:113144000-113145000	Weak transcription	Adipose Nuclei	Adipose

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