Variant report

Variant	rs286783
Chromosome Location	chr5:107419975-107419976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs158189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs169640	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176384	0.89[EUR][1000 genomes]
rs192617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286748	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286752	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286755	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286757	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286790	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286811	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs286812	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs286816	0.94[CEU][hapmap]
rs286820	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs288130	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288140	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288148	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs288150	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288153	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288155	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288156	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288158	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288162	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288163	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288165	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288166	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288167	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288174	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs288176	0.90[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs288182	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs288186	0.82[JPT][hapmap]
rs289234	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909879	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909880	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2909882	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34412	1.00[CHB][hapmap]
rs34416	0.86[EUR][1000 genomes]
rs34417	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs34418	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs34430	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs40062	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs40072	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs455394	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502790	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029650	chr5:107370079-107435314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107403800-107429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:107412200-107420600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:107414800-107427800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:107415000-107421000	Weak transcription	Pancreas	Pancrea
6	chr5:107416000-107443600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107416200-107424200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:107416800-107427400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:107417200-107420200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:107417200-107420400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:107418000-107421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:107418600-107421200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:107418800-107420200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:107419000-107420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:107419000-107420200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:107419000-107420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:107419000-107420200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:107419000-107421000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:107419200-107421000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:107419200-107436600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:107419400-107420000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr5:107419400-107420000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:107419400-107420000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:107419400-107420200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:107419600-107420000	Enhancers	Gastric	stomach
26	chr5:107419600-107420200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:107419600-107420200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:107419600-107420200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:107419600-107420400	Enhancers	Fetal Lung	lung
30	chr5:107419600-107420800	Weak transcription	Right Atrium	heart
31	chr5:107419600-107421000	Weak transcription	Placenta	Placenta
32	chr5:107419800-107420000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:107419800-107420000	Enhancers	Left Ventricle	heart
34	chr5:107419800-107420000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:107419800-107420200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:107419800-107420200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:107419800-107420200	Enhancers	Brain Germinal Matrix	brain
38	chr5:107419800-107420200	Enhancers	Brain Hippocampus Middle	brain
39	chr5:107419800-107420200	Enhancers	Fetal Kidney	kidney
40	chr5:107419800-107420200	Enhancers	Skeletal Muscle Male	skeletal muscle

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