Variant report

Variant	rs279414
Chromosome Location	chr5:167126280-167126281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11738000	0.86[JPT][hapmap]
rs1459072	0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs203309	0.95[CEU][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs279405	0.84[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs279407	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs279415	0.85[EUR][1000 genomes]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167123400-167128800	Enhancers	HSMM	muscle
2	chr5:167123800-167126800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:167124000-167127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:167124200-167129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:167124800-167128600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:167125000-167126800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:167125000-167129400	Enhancers	Hela-S3	cervix
8	chr5:167125000-167129400	Enhancers	HMEC	breast
9	chr5:167125000-167129400	Enhancers	NHEK	skin
10	chr5:167125200-167127600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:167125200-167128400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:167125200-167128400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:167125200-167128600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:167125200-167128600	Enhancers	NHDF-Ad	bronchial
15	chr5:167125200-167129200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:167125200-167129400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:167125200-167129400	Enhancers	NH-A	brain
18	chr5:167125400-167126600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:167125400-167126600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:167125400-167126600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:167125400-167127800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:167125400-167127800	Enhancers	NHLF	lung
23	chr5:167125400-167129400	Enhancers	Osteobl	bone
24	chr5:167125600-167127400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:167125800-167126600	Weak transcription	Esophagus	oesophagus
26	chr5:167126000-167126400	Flanking Active TSS	A549	lung
27	chr5:167126000-167127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:167126000-167127200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:167126000-167127400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:167126000-167127600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:167126000-167127600	Enhancers	Fetal Heart	heart
32	chr5:167126000-167128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:167126200-167126400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:167126200-167126400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:167126200-167126400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:167126200-167126400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:167126200-167126400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:167126200-167126600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:167126200-167126600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:167126200-167126600	Flanking Active TSS	HSMMtube	muscle
41	chr5:167126200-167127000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:167126200-167127600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr5:167126200-167128800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:167126200-167128800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:167126200-167128800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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