Variant report

Variant	rs1414109
Chromosome Location	chr13:80384776-80384777
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1158596	0.90[EUR][1000 genomes]
rs1160131	0.88[EUR][1000 genomes]
rs4319636	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7321213	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324675	0.89[EUR][1000 genomes]
rs9318656	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9318657	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530960	0.88[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9545192	0.89[EUR][1000 genomes]
rs9545193	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9545204	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545244	0.87[CHB][hapmap]
rs9574473	0.91[EUR][1000 genomes]
rs9574484	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9601268	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900590	chr13:80342186-80421340	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80377400-80385400	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:80378400-80385800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr13:80378400-80386000	Weak transcription	Spleen	Spleen
4	chr13:80378400-80386400	Weak transcription	Thymus	Thymus
5	chr13:80381400-80384800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:80383400-80386000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:80383800-80386000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:80383800-80386200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:80384000-80384800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr13:80384000-80384800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:80384000-80385000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:80384000-80385200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr13:80384000-80385400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:80384000-80385600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:80384000-80386000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:80384000-80386000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:80384000-80386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:80384000-80386200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:80384000-80386600	Enhancers	Fetal Heart	heart
20	chr13:80384000-80387800	Enhancers	HUVEC	blood vessel
21	chr13:80384200-80384800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:80384200-80385000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:80384200-80385000	Enhancers	Placenta	Placenta
24	chr13:80384200-80385600	Enhancers	HMEC	breast
25	chr13:80384200-80385800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:80384200-80385800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:80384200-80386200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:80384200-80386200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:80384400-80384800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:80384400-80384800	Enhancers	NH-A	brain
31	chr13:80384400-80385000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:80384400-80385000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:80384400-80385000	Enhancers	HSMMtube	muscle
34	chr13:80384400-80385600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr13:80384400-80385600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:80384400-80385600	Enhancers	Fetal Lung	lung
37	chr13:80384400-80385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:80384400-80386000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:80384400-80386200	Enhancers	A549	lung
40	chr13:80384600-80385000	Enhancers	HSMM	muscle
41	chr13:80384600-80385200	Enhancers	NHLF	lung
42	chr13:80384600-80385400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:80384600-80385400	Enhancers	Fetal Muscle Leg	muscle
44	chr13:80384600-80385600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:80384600-80385600	Enhancers	Osteobl	bone
46	chr13:80384600-80385800	Enhancers	NHEK	skin
47	chr13:80384600-80386400	Enhancers	NHDF-Ad	bronchial

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