Variant report

Variant	rs1139759
Chromosome Location	chr1:47100099-47100100
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10890409	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890412	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10890413	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211334	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211339	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211340	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211351	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12026027	0.81[ASN][1000 genomes]
rs12029031	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12038572	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12048954	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118483	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12138338	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12142631	0.80[EUR][1000 genomes]
rs12733214	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1440484	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007344	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2218190	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275380	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3737729	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660950	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660957	0.82[AFR][1000 genomes];0.82[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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1007280	chr1:47088116-47129588	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47083200-47100200	Weak transcription	Psoas Muscle	Psoas
2	chr1:47083200-47104600	Weak transcription	Stomach Mucosa	stomach
3	chr1:47083200-47115000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:47083400-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:47088000-47100800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:47088600-47108600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:47088600-47108800	Weak transcription	Hela-S3	cervix
9	chr1:47089800-47112400	Weak transcription	Small Intestine	intestine
10	chr1:47090200-47121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:47091400-47105000	Weak transcription	HMEC	breast
12	chr1:47091600-47100800	Weak transcription	Fetal Kidney	kidney
13	chr1:47094200-47101600	Strong transcription	Left Ventricle	heart
14	chr1:47094200-47102600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:47094200-47102600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr1:47094200-47103400	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:47094200-47105800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:47094400-47102400	Strong transcription	Brain Angular Gyrus	brain
19	chr1:47094400-47103800	Strong transcription	Primary T cells from cord blood	blood
20	chr1:47094600-47102600	Strong transcription	Adipose Nuclei	Adipose
21	chr1:47094600-47105600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:47094600-47111000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:47094600-47119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:47095200-47107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:47095400-47103600	Strong transcription	Liver	Liver
26	chr1:47095600-47102200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:47095600-47103000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:47095600-47103000	Strong transcription	Brain Cingulate Gyrus	brain
29	chr1:47095600-47103000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:47095600-47103200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:47095600-47104000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:47095600-47109000	Strong transcription	Placenta	Placenta
33	chr1:47095800-47104600	Weak transcription	A549	lung
34	chr1:47096000-47103400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:47096400-47100600	Weak transcription	HUVEC	blood vessel
36	chr1:47096400-47103200	Strong transcription	Fetal Brain Female	brain
37	chr1:47096600-47100200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:47096600-47101600	Strong transcription	Right Ventricle	heart
39	chr1:47096600-47101800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:47096600-47103800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:47096600-47105800	Strong transcription	Brain Anterior Caudate	brain
42	chr1:47096800-47102800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:47096800-47103000	Strong transcription	Brain Germinal Matrix	brain
44	chr1:47096800-47103600	Strong transcription	Brain Hippocampus Middle	brain
45	chr1:47096800-47103800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:47096800-47105600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:47097000-47100800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:47097000-47101800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:47097000-47101800	Strong transcription	Fetal Thymus	thymus
50	chr1:47097000-47102400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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