Variant report

Variant	rs279412
Chromosome Location	chr5:167124163-167124164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12656874	1.00[CEU][hapmap]
rs12657312	1.00[CEU][hapmap]
rs12657597	1.00[CEU][hapmap]
rs17068869	1.00[JPT][hapmap]
rs17069029	1.00[CEU][hapmap]
rs2287764	1.00[CEU][hapmap]
rs2337016	1.00[CEU][hapmap]
rs41416744	1.00[CEU][hapmap]
rs7701095	1.00[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:21 , 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	chr5:167121600-167125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:167122000-167125400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:167123400-167128800	Enhancers	HSMM	muscle
6	chr5:167123600-167124200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:167123800-167124200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:167123800-167124200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:167123800-167124200	ZNF genes & repeats	A549	lung
10	chr5:167123800-167124200	Enhancers	HSMMtube	muscle
11	chr5:167123800-167124400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:167123800-167126800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:167124000-167124200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:167124000-167124200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:167124000-167124200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:167124000-167124200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:167124000-167124200	Enhancers	NHDF-Ad	bronchial
18	chr5:167124000-167125200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:167124000-167125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:167124000-167126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:167124000-167127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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