Variant report

Variant	rs12515062
Chromosome Location	chr5:167004179-167004180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10035359	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10475852	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12517217	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs12518637	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[ASN][1000 genomes]
rs17068777	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17068860	1.00[CEU][hapmap]
rs4868802	1.00[EUR][1000 genomes]
rs4869060	1.00[CHB][hapmap]
rs58111404	1.00[EUR][1000 genomes]
rs6862511	1.00[CEU][hapmap]
rs6867682	1.00[CEU][hapmap]
rs6869063	1.00[CEU][hapmap]
rs73801291	1.00[EUR][1000 genomes]
rs7707806	1.00[CEU][hapmap]
rs7727960	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7730427	1.00[CEU][hapmap]
rs7731493	1.00[CEU][hapmap]

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	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	nsv883104	chr5:166971457-167037934	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167001600-167004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:167002200-167004600	Active TSS	NH-A	brain
3	chr5:167002400-167004600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167002600-167004200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:167002800-167006600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:167003000-167005200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:167003200-167004200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167003200-167005000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:167003200-167005000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:167003200-167005400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:167003200-167014200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:167003400-167004200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:167003400-167005000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:167003600-167004200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:167003600-167004400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr5:167003600-167004600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:167003800-167004400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:167003800-167004400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:167003800-167004400	Bivalent/Poised TSS	Right Atrium	heart
20	chr5:167004000-167004400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:167004000-167004400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:167004000-167004400	Flanking Active TSS	Fetal Lung	lung
23	chr5:167004000-167004400	Active TSS	HSMMtube	muscle
24	chr5:167004000-167004800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:167004000-167006200	Weak transcription	HSMM	muscle

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