Variant report

Variant	rs16891654
Chromosome Location	chr8:42815861-42815862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs16891648	1.00[ASW][hapmap];0.85[MKK][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891652	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891667	1.00[ASW][hapmap]
rs16891682	1.00[AMR][1000 genomes]
rs16891686	1.00[AMR][1000 genomes]
rs16891699	1.00[AMR][1000 genomes]
rs16891701	1.00[AMR][1000 genomes]
rs41411348	1.00[ASW][hapmap]
rs55636430	1.00[AMR][1000 genomes]
rs55745135	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55870161	1.00[AMR][1000 genomes]
rs55908519	1.00[AMR][1000 genomes]
rs55959405	1.00[AMR][1000 genomes]
rs56313744	1.00[AMR][1000 genomes]
rs56384848	1.00[AMR][1000 genomes]
rs56789342	1.00[AMR][1000 genomes]
rs57012672	1.00[AMR][1000 genomes]
rs57180588	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279972	1.00[AMR][1000 genomes]
rs57354259	1.00[AMR][1000 genomes]
rs57713224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57746820	1.00[AMR][1000 genomes]
rs57798571	1.00[AMR][1000 genomes]
rs58729340	1.00[AMR][1000 genomes]
rs59139251	1.00[AMR][1000 genomes]
rs59320956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59364656	1.00[AMR][1000 genomes]
rs60259766	1.00[AMR][1000 genomes]
rs60748981	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60960611	1.00[AMR][1000 genomes]
rs61356971	1.00[AMR][1000 genomes]
rs61468554	1.00[AMR][1000 genomes]
rs73675437	1.00[AMR][1000 genomes]
rs73675439	1.00[AMR][1000 genomes]
rs73675443	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675448	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675449	1.00[AMR][1000 genomes]
rs73675450	1.00[AMR][1000 genomes]
rs73675452	1.00[AMR][1000 genomes]
rs73675454	1.00[AMR][1000 genomes]
rs73675457	1.00[AMR][1000 genomes]
rs73675458	1.00[AMR][1000 genomes]
rs73675460	1.00[AMR][1000 genomes]
rs73675461	1.00[AMR][1000 genomes]
rs73675463	1.00[AMR][1000 genomes]
rs73675464	1.00[AMR][1000 genomes]
rs73675466	1.00[AMR][1000 genomes]
rs73675467	1.00[AMR][1000 genomes]
rs73675468	1.00[AMR][1000 genomes]
rs73675469	1.00[AMR][1000 genomes]
rs73675470	1.00[AMR][1000 genomes]
rs73675473	1.00[AMR][1000 genomes]
rs73675475	1.00[AMR][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	esv1799802	chr8:42812599-42821666	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42787800-42820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:42795000-42825000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:42795800-42829800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:42796000-42822200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:42800400-42823600	Weak transcription	Hela-S3	cervix
8	chr8:42802200-42826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:42803800-42824200	Strong transcription	HSMM	muscle
10	chr8:42804800-42816000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:42805400-42829200	Weak transcription	Small Intestine	intestine
12	chr8:42806600-42817200	Strong transcription	Osteobl	bone
13	chr8:42807800-42819600	Weak transcription	Thymus	Thymus
14	chr8:42809200-42836800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:42809600-42826400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:42809800-42842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:42810000-42832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:42810600-42845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:42812200-42825800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:42812600-42825600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:42813200-42817200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:42813200-42834600	Strong transcription	Dnd41	blood
23	chr8:42813200-42845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:42813200-42846000	Weak transcription	Stomach Mucosa	stomach
25	chr8:42813400-42818200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:42813400-42826400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:42813600-42825400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:42813600-42826600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:42813800-42816000	Strong transcription	K562	blood
30	chr8:42813800-42816400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:42813800-42816800	Strong transcription	Fetal Kidney	kidney
32	chr8:42813800-42816800	Strong transcription	NH-A	brain
33	chr8:42813800-42817200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:42813800-42817400	Strong transcription	Fetal Brain Female	brain
35	chr8:42813800-42817400	Strong transcription	HUVEC	blood vessel
36	chr8:42813800-42818000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:42813800-42818000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:42813800-42824600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:42813800-42825000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:42813800-42825400	Strong transcription	Fetal Lung	lung
41	chr8:42813800-42828200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:42813800-42842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:42813800-42846600	Strong transcription	Placenta	Placenta
44	chr8:42814000-42816800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:42814000-42817000	Strong transcription	A549	lung
46	chr8:42814000-42817800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:42814000-42818600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:42814000-42824800	Strong transcription	Liver	Liver
49	chr8:42814000-42836800	Strong transcription	Fetal Intestine Large	intestine
50	chr8:42814200-42816000	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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