Variant report

Variant	rs66462982
Chromosome Location	chr9:16867042-16867043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10118889	0.84[ASN][1000 genomes]
rs10119493	0.84[ASN][1000 genomes]
rs10119513	0.82[ASN][1000 genomes]
rs10119515	0.84[ASN][1000 genomes]
rs10435763	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10733325	0.89[ASN][1000 genomes]
rs10733326	0.89[ASN][1000 genomes]
rs10733327	0.89[ASN][1000 genomes]
rs10733328	0.89[ASN][1000 genomes]
rs10733329	0.89[ASN][1000 genomes]
rs10733330	0.89[ASN][1000 genomes]
rs10738464	0.84[ASN][1000 genomes]
rs10738465	0.84[ASN][1000 genomes]
rs10756823	0.93[ASN][1000 genomes]
rs10756830	0.89[ASN][1000 genomes]
rs10756833	0.81[ASN][1000 genomes]
rs10810660	0.84[ASN][1000 genomes]
rs10962651	0.93[ASN][1000 genomes]
rs1339550	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4431684	0.89[ASN][1000 genomes]
rs4497063	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55913845	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56155231	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59057888	0.91[EUR][1000 genomes]
rs60176654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60234091	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60618682	0.93[EUR][1000 genomes]
rs60880076	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67322332	0.93[EUR][1000 genomes]
rs7024013	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7035522	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7039735	0.87[ASN][1000 genomes]
rs7044268	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7047070	0.89[ASN][1000 genomes]
rs7047512	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7047534	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7860276	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7862084	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7862213	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs954857	0.84[ASN][1000 genomes]
rs954858	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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
3	nsv892651	chr9:16816755-16869240	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv892652	chr9:16843128-16958312	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv892653	chr9:16848790-16895610	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv1018615	chr9:16865804-16960970	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv540074	chr9:16865804-16960970	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16860800-16867800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:16862400-16868000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:16864200-16867600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:16864400-16867800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:16864400-16867800	Enhancers	NHDF-Ad	bronchial
6	chr9:16864400-16868000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:16864600-16867800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:16864800-16869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:16864800-16869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:16865000-16867400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:16865000-16867400	Enhancers	Fetal Lung	lung
12	chr9:16865000-16867600	Weak transcription	Psoas Muscle	Psoas
13	chr9:16865000-16867800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:16865000-16867800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:16865000-16867800	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:16865000-16867800	Enhancers	Osteobl	bone
17	chr9:16865000-16868000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:16865000-16868400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr9:16865000-16869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:16865000-16869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:16865000-16872000	Active TSS	Stomach Smooth Muscle	stomach
22	chr9:16865200-16868000	Weak transcription	Right Atrium	heart
23	chr9:16865200-16868000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:16865400-16867400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:16865600-16867400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:16865600-16867800	Enhancers	NH-A	brain
27	chr9:16866000-16867600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:16866200-16867800	Enhancers	A549	lung
29	chr9:16866200-16868000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:16866400-16867600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:16866400-16867800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:16866400-16867800	Enhancers	Fetal Kidney	kidney
33	chr9:16866400-16868200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:16866400-16871800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:16866600-16867600	Enhancers	Colon Smooth Muscle	Colon
36	chr9:16866600-16867800	Enhancers	Adipose Nuclei	Adipose
37	chr9:16866600-16867800	Enhancers	Rectal Smooth Muscle	rectum
38	chr9:16866600-16869600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:16866600-16872200	Active TSS	NHLF	lung
40	chr9:16866800-16867400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:16866800-16867600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:16866800-16867600	Weak transcription	Ovary	ovary
43	chr9:16866800-16872000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr9:16867000-16867200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr9:16867000-16867200	Flanking Active TSS	HSMM	muscle
46	chr9:16867000-16867400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:16867000-16867600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:16867000-16867800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:16867000-16867800	Weak transcription	Fetal Stomach	stomach
50	chr9:16867000-16867800	Enhancers	HSMMtube	muscle

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