Variant report

Variant	rs59379949
Chromosome Location	chr9:16652450-16652451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10118895	0.83[EUR][1000 genomes]
rs10122372	0.93[EUR][1000 genomes]
rs10123515	0.80[EUR][1000 genomes]
rs10124530	0.86[EUR][1000 genomes]
rs10125014	0.85[EUR][1000 genomes]
rs1029016	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10738440	0.83[EUR][1000 genomes]
rs10756764	0.83[EUR][1000 genomes]
rs10756774	0.85[EUR][1000 genomes]
rs10756775	0.85[EUR][1000 genomes]
rs10962484	0.88[EUR][1000 genomes]
rs10962510	0.83[EUR][1000 genomes]
rs12004304	0.88[EUR][1000 genomes]
rs12339625	0.88[EUR][1000 genomes]
rs12340504	0.83[EUR][1000 genomes]
rs1415472	0.85[EUR][1000 genomes]
rs1538102	0.95[EUR][1000 genomes]
rs16934816	0.81[EUR][1000 genomes]
rs16934855	0.85[EUR][1000 genomes]
rs16934875	0.84[AMR][1000 genomes]
rs16934886	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16934893	0.91[AFR][1000 genomes]
rs17738890	0.90[EUR][1000 genomes]
rs2095657	0.85[EUR][1000 genomes]
rs28428651	0.88[EUR][1000 genomes]
rs28501274	0.88[EUR][1000 genomes]
rs28648047	0.88[EUR][1000 genomes]
rs28651010	0.90[EUR][1000 genomes]
rs56218971	0.90[EUR][1000 genomes]
rs7018743	0.85[EUR][1000 genomes]
rs7018877	0.83[AMR][1000 genomes]
rs7019016	0.83[AMR][1000 genomes]
rs7019625	0.88[EUR][1000 genomes]
rs7032239	0.85[EUR][1000 genomes]
rs7032772	0.81[EUR][1000 genomes]
rs7036282	0.88[EUR][1000 genomes]
rs7048805	0.88[EUR][1000 genomes]
rs73417477	0.88[EUR][1000 genomes]
rs73421454	0.91[AFR][1000 genomes]
rs7859395	0.90[EUR][1000 genomes]
rs7870508	0.81[EUR][1000 genomes]
rs7870730	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7873338	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv430000	chr9:16603483-16671045	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16629600-16653600	Weak transcription	HUVEC	blood vessel
2	chr9:16637800-16652600	Weak transcription	Fetal Stomach	stomach
3	chr9:16640000-16670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:16643200-16652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:16643200-16652600	Weak transcription	NHLF	lung
6	chr9:16643200-16653400	Weak transcription	NHDF-Ad	bronchial
7	chr9:16643600-16653600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:16645000-16652600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:16646200-16652600	Weak transcription	Ovary	ovary
10	chr9:16646200-16656800	Weak transcription	HSMMtube	muscle
11	chr9:16646400-16656600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:16646600-16661000	Weak transcription	HSMM	muscle
13	chr9:16647200-16653600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:16649200-16656000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:16649400-16654200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr9:16650800-16652600	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:16650800-16657600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:16651000-16652600	Enhancers	Colon Smooth Muscle	Colon
19	chr9:16651000-16652600	Enhancers	Fetal Lung	lung
20	chr9:16651200-16653400	Enhancers	Fetal Kidney	kidney
21	chr9:16651200-16656800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:16651400-16653400	Enhancers	A549	lung
23	chr9:16651400-16653800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:16651400-16656800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:16651800-16652600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:16651800-16652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:16651800-16653600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:16652200-16653800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:16652200-16654400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:16652400-16652600	Enhancers	Osteobl	bone
31	chr9:16652400-16653400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:16652400-16654000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:16652400-16656800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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