Variant report

Variant	rs16869292
Chromosome Location	chr5:16965104-16965105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035796	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10037148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045328	1.00[ASN][1000 genomes]
rs10059183	0.92[ASN][1000 genomes]
rs10060802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358236	1.00[ASN][1000 genomes]
rs13361318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60550726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60772415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049605	1.00[EUR][1000 genomes]
rs73049608	1.00[EUR][1000 genomes]
rs73066842	1.00[ASN][1000 genomes]
rs73066857	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73066866	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3418808	chr5:16940001-16973969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16962600-16970400	Weak transcription	Right Atrium	heart
2	chr5:16963200-16965400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:16963800-16965200	Enhancers	NHEK	skin
4	chr5:16964400-16965200	Enhancers	Placenta	Placenta
5	chr5:16964600-16965200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:16964800-16965200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:16964800-16965400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:16964800-16965400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:16964800-16965400	Enhancers	HSMMtube	muscle
10	chr5:16964800-16966000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:16964800-16966000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:16964800-16966200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:16964800-16966200	Enhancers	Fetal Kidney	kidney
14	chr5:16964800-16966200	Enhancers	Osteobl	bone
15	chr5:16964800-16970000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:16965000-16965200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:16965000-16965400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:16965000-16965400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:16965000-16965400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:16965000-16965400	Enhancers	NH-A	brain
21	chr5:16965000-16965800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:16965000-16965800	Enhancers	HSMM	muscle
23	chr5:16965000-16965800	Enhancers	NHLF	lung
24	chr5:16965000-16966000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:16965000-16966200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:16965000-16966200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:16965000-16966200	Enhancers	NHDF-Ad	bronchial

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