Variant report

Variant	rs154000
Chromosome Location	chr5:127686029-127686030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs154001	0.88[ASN][1000 genomes]
rs154002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255725	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255727	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255730	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27859	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs364671	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	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs468026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468200	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs468229	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs469294	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
4	chr5:127661200-127693000	Weak transcription	NHLF	lung
5	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
6	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
7	chr5:127673800-127706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
9	chr5:127676600-127686800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:127677600-127694800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:127677800-127711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:127678200-127686200	Weak transcription	NH-A	brain
13	chr5:127678600-127701000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:127679200-127704200	Weak transcription	Fetal Intestine Large	intestine
15	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
16	chr5:127679800-127704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:127681200-127689800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:127681400-127694200	Weak transcription	Fetal Lung	lung
19	chr5:127681400-127704400	Weak transcription	Ovary	ovary
20	chr5:127681400-127706600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:127681600-127690200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:127681600-127704200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:127681600-127714400	Weak transcription	HUVEC	blood vessel
24	chr5:127682800-127686400	Weak transcription	Left Ventricle	heart
25	chr5:127682800-127688800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:127683800-127692000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:127684400-127687800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:127684600-127686600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr5:127684600-127686800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:127684600-127687000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:127684800-127689000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:127685000-127686600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:127685000-127687600	Strong transcription	Fetal Stomach	stomach
34	chr5:127685000-127688200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:127685000-127691200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:127685200-127686600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:127685200-127689200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:127685400-127686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:127685400-127686800	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:127685400-127690400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:127685400-127725000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:127685600-127686400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:127685600-127687600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr5:127685600-127691800	Weak transcription	NHEK	skin
45	chr5:127685600-127704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:127685800-127686600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:127685800-127687000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:127685800-127694000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:127685800-127702000	Weak transcription	HMEC	breast
50	chr5:127685800-127712400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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