Variant report

Variant	rs279413
Chromosome Location	chr5:167125222-167125223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10057249	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1459072	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs203309	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs2244456	0.83[CEU][hapmap]
rs279403	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs279404	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs279406	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs279407	0.86[ASN][1000 genomes]
rs279416	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs875208	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv5115	chr5:167101911-167147020	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv16566	chr5:167118388-167126431	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167111400-167125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167116200-167125400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167122000-167125400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:167123400-167128800	Enhancers	HSMM	muscle
5	chr5:167123800-167126800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:167124000-167126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:167124000-167127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:167124200-167125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:167124200-167129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:167124400-167126200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:167124800-167128600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:167125000-167126200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:167125000-167126800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:167125000-167129400	Enhancers	Hela-S3	cervix
15	chr5:167125000-167129400	Enhancers	HMEC	breast
16	chr5:167125000-167129400	Enhancers	NHEK	skin
17	chr5:167125200-167125400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:167125200-167125600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:167125200-167126000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:167125200-167126000	Enhancers	A549	lung
21	chr5:167125200-167126200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:167125200-167126200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:167125200-167126200	Enhancers	HSMMtube	muscle
24	chr5:167125200-167127600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:167125200-167128400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:167125200-167128400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:167125200-167128600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:167125200-167128600	Enhancers	NHDF-Ad	bronchial
29	chr5:167125200-167129200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:167125200-167129400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:167125200-167129400	Enhancers	NH-A	brain

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