Variant report

Variant	rs10122372
Chromosome Location	chr9:16638043-16638044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10116857	0.84[EUR][1000 genomes]
rs10118895	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10120002	0.82[MEX][hapmap]
rs10120281	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10123515	0.87[AMR][1000 genomes]
rs10124530	0.88[EUR][1000 genomes]
rs10125014	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1029016	0.83[EUR][1000 genomes]
rs10511622	0.85[TSI][hapmap]
rs10733311	0.81[ASN][1000 genomes]
rs10738437	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs10738440	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10738441	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10738442	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10738443	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10756764	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10756765	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs10756766	0.90[ASN][1000 genomes]
rs10756767	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10756768	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10756770	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10756774	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10756775	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10962484	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10962510	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12000426	0.81[EUR][1000 genomes]
rs12004304	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12337676	0.81[EUR][1000 genomes]
rs12339625	0.85[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12340504	0.81[EUR][1000 genomes]
rs12350242	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1337400	0.81[EUR][1000 genomes]
rs1415472	0.82[EUR][1000 genomes]
rs1415474	1.00[JPT][hapmap]
rs1415475	0.82[EUR][1000 genomes]
rs1415476	1.00[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs1538102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934816	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16934842	0.84[EUR][1000 genomes]
rs16934855	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16934875	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs16934886	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17738890	0.88[EUR][1000 genomes]
rs1927626	0.81[EUR][1000 genomes]
rs2065937	0.81[EUR][1000 genomes]
rs2095657	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28428651	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28457730	0.81[AMR][1000 genomes]
rs28490464	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28501274	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28648047	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28651010	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34950291	0.81[ASN][1000 genomes]
rs4466493	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961725	0.90[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs4961726	1.00[ASN][1000 genomes]
rs56218971	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59379949	0.93[EUR][1000 genomes]
rs7018743	0.93[EUR][1000 genomes]
rs7018877	1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7019016	1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7019105	1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7019625	0.90[EUR][1000 genomes]
rs7032239	0.93[EUR][1000 genomes]
rs7032772	0.88[EUR][1000 genomes]
rs7036282	0.90[EUR][1000 genomes]
rs7048805	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7049170	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs725011	0.84[EUR][1000 genomes]
rs73417477	0.85[EUR][1000 genomes]
rs73421425	0.90[ASN][1000 genomes]
rs7470623	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7854979	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7859395	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7870508	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7870730	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7873338	0.93[EUR][1000 genomes];0.81[ASN][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	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16629000-16640600	Weak transcription	HSMMtube	muscle
2	chr9:16629200-16642200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:16629400-16640400	Weak transcription	HSMM	muscle
4	chr9:16629600-16653600	Weak transcription	HUVEC	blood vessel
5	chr9:16630000-16639600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:16630000-16642400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:16630400-16640600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:16634000-16638200	Enhancers	Colon Smooth Muscle	Colon
9	chr9:16636000-16641800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:16636000-16642000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:16636400-16642400	Weak transcription	NHDF-Ad	bronchial
12	chr9:16636400-16645800	Weak transcription	Ovary	ovary
13	chr9:16636600-16638200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:16636600-16638400	Enhancers	Dnd41	blood
15	chr9:16637000-16638200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr9:16637000-16638200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:16637000-16638200	Enhancers	HMEC	breast
18	chr9:16637000-16638400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:16637000-16638400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:16637000-16639000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:16637200-16638200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:16637200-16638200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:16637200-16638200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:16637200-16638200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:16637200-16638200	Enhancers	A549	lung
26	chr9:16637200-16638200	Enhancers	NH-A	brain
27	chr9:16637200-16638400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:16637200-16638400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:16637200-16638400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:16637200-16638400	Enhancers	NHLF	lung
31	chr9:16637400-16638200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:16637400-16638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:16637800-16644600	Weak transcription	Fetal Lung	lung
34	chr9:16637800-16652600	Weak transcription	Fetal Stomach	stomach
35	chr9:16638000-16638400	Enhancers	NHEK	skin
36	chr9:16638000-16638400	Enhancers	Osteobl	bone
37	chr9:16638000-16640600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:16638000-16651200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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