Variant report

Variant	rs16891648
Chromosome Location	chr8:42785872-42785873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42779435..42782090-chr8:42784603..42786118,2	K562	blood:
2	chr8:42784463..42786679-chr8:42788078..42790226,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16891652	1.00[ASW][hapmap];0.85[MKK][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891654	1.00[ASW][hapmap];0.85[MKK][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891667	1.00[ASW][hapmap];0.86[LWK][hapmap]
rs16891682	1.00[AMR][1000 genomes]
rs41411348	1.00[ASW][hapmap];0.86[LWK][hapmap]
rs55636430	1.00[AMR][1000 genomes]
rs55745135	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	1.00[AMR][1000 genomes]
rs57279972	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57354259	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57713224	0.94[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59364656	1.00[AMR][1000 genomes]
rs60259766	1.00[AMR][1000 genomes]
rs60748981	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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675448	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]

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	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
5	chr8:42764800-42787600	Weak transcription	Thymus	Thymus
6	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:42768200-42787600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:42769400-42786000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:42769800-42786000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:42769800-42787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:42771400-42788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:42771800-42787200	Weak transcription	GM12878-XiMat	blood
13	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
14	chr8:42772600-42786000	Weak transcription	Ovary	ovary
15	chr8:42772600-42789800	Weak transcription	Small Intestine	intestine
16	chr8:42772600-42815400	Weak transcription	Gastric	stomach
17	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
18	chr8:42774200-42806400	Weak transcription	Lung	lung
19	chr8:42775600-42787200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
21	chr8:42775800-42786000	Weak transcription	NHEK	skin
22	chr8:42776000-42786000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:42776000-42787000	Weak transcription	HMEC	breast
24	chr8:42776000-42787200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:42776000-42796800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:42776000-42797800	Weak transcription	K562	blood
27	chr8:42776000-42802600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
30	chr8:42776200-42786200	Weak transcription	Brain Anterior Caudate	brain
31	chr8:42776200-42786200	Weak transcription	NHLF	lung
32	chr8:42776200-42787600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:42776200-42791000	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:42776200-42793400	Weak transcription	Brain Substantia Nigra	brain
35	chr8:42776200-42810600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:42776400-42807200	Weak transcription	NHDF-Ad	bronchial
37	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:42777200-42805000	Weak transcription	A549	lung
39	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
40	chr8:42779200-42788600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:42779400-42786000	Weak transcription	Brain Germinal Matrix	brain
43	chr8:42779400-42791000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:42779800-42788600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:42780400-42789200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:42780400-42790000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:42780600-42790000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:42780800-42789800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:42781000-42789200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:42781000-42789600	Strong transcription	Primary monocytes fromperipheralblood	blood

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