Variant report

Variant	rs1482363
Chromosome Location	chr5:113142342-113142343
allele	C/T
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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520427	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135987	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136008	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136014	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136015	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136016	0.89[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881008	1.00[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113141400-113142600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:113141400-113144200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:113141400-113144400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:113141600-113142400	Flanking Active TSS	HUVEC	blood vessel
5	chr5:113141600-113142600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:113141600-113142800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:113141600-113143600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:113141600-113146400	Enhancers	Fetal Stomach	stomach
9	chr5:113141800-113142400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:113141800-113142400	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:113141800-113142400	Flanking Active TSS	Fetal Kidney	kidney
12	chr5:113141800-113142600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:113141800-113142600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:113141800-113142800	Enhancers	Fetal Brain Female	brain
15	chr5:113141800-113143000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:113141800-113143000	Enhancers	Brain Germinal Matrix	brain
17	chr5:113141800-113143000	Enhancers	Fetal Intestine Large	intestine
18	chr5:113141800-113143600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:113141800-113143800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:113141800-113144200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:113141800-113144800	Enhancers	Fetal Lung	lung
22	chr5:113142000-113142400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:113142000-113142400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:113142000-113142400	Active TSS	Aorta	Aorta
25	chr5:113142000-113142400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:113142000-113142400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr5:113142000-113142400	Enhancers	Fetal Heart	heart
28	chr5:113142000-113142400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:113142000-113142400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr5:113142000-113142400	Enhancers	NHEK	skin
31	chr5:113142000-113142600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:113142000-113142800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr5:113142000-113142800	Enhancers	Duodenum Mucosa	Duodenum
34	chr5:113142000-113143200	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr5:113142000-113143200	Enhancers	NH-A	brain
36	chr5:113142000-113143400	Enhancers	NHLF	lung
37	chr5:113142000-113143600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:113142000-113143800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:113142000-113144600	Enhancers	Rectal Smooth Muscle	rectum
40	chr5:113142000-113144800	Enhancers	Fetal Brain Male	brain
41	chr5:113142200-113142400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr5:113142200-113142400	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr5:113142200-113142400	Active TSS	NHDF-Ad	bronchial
44	chr5:113142200-113142600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:113142200-113142600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:113142200-113142600	Enhancers	HMEC	breast
47	chr5:113142200-113142800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:113142200-113142800	Enhancers	Brain Substantia Nigra	brain
49	chr5:113142200-113143000	Enhancers	Fetal Intestine Small	intestine
50	chr5:113142200-113143200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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