Variant report

Variant	rs468182
Chromosome Location	chr5:127681574-127681575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10519991	1.00[CHB][hapmap]
rs154000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154001	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs154002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608902	1.00[CHB][hapmap]
rs17676837	1.00[CHB][hapmap]
rs17676891	0.85[CHB][hapmap]
rs255725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255727	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27859	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27913	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs364671	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805639	1.00[ASN][1000 genomes]
rs39938	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs422728	0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs468026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs468229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs469294	0.93[CEU][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][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	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127660600-127683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
8	chr5:127661200-127683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:127661200-127693000	Weak transcription	NHLF	lung
10	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
11	chr5:127661800-127683600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:127664600-127682000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
14	chr5:127673200-127683800	Strong transcription	Fetal Stomach	stomach
15	chr5:127673800-127706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:127674800-127684600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:127676600-127681600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:127676600-127681800	Strong transcription	Fetal Muscle Leg	muscle
20	chr5:127676600-127686800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:127676800-127681600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr5:127676800-127683800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:127677000-127681600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:127677200-127681600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:127677400-127681600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:127677600-127694800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:127677800-127711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:127678000-127681600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:127678200-127686200	Weak transcription	NH-A	brain
30	chr5:127678600-127701000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:127678800-127681600	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr5:127679200-127684600	Weak transcription	A549	lung
33	chr5:127679200-127704200	Weak transcription	Fetal Intestine Large	intestine
34	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
35	chr5:127679800-127704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:127680000-127681600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:127680000-127683400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:127680600-127681600	Strong transcription	Fetal Kidney	kidney
39	chr5:127680800-127681600	Strong transcription	HUVEC	blood vessel
40	chr5:127680800-127683400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:127681000-127681800	Genic enhancers	Fetal Heart	heart
42	chr5:127681000-127682800	Enhancers	Stomach Smooth Muscle	stomach
43	chr5:127681200-127681600	Enhancers	HSMMtube	muscle
44	chr5:127681200-127682200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr5:127681200-127682600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:127681200-127682800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:127681200-127685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:127681200-127689800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:127681400-127681600	Weak transcription	Gastric	stomach
50	chr5:127681400-127682400	Weak transcription	Left Ventricle	heart

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