Variant report

Variant	rs57416148
Chromosome Location	chr8:66717727-66717728
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66714740..66718106-chr8:66754325..66756257,3	K562	blood:
2	chr8:66711708..66716054-chr8:66716303..66719778,4	K562	blood:
3	chr8:66700331..66702852-chr8:66715222..66718861,3	K562	blood:

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11992833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993474	0.87[AMR][1000 genomes]
rs11994363	0.87[AMR][1000 genomes]
rs11994410	0.87[AMR][1000 genomes]
rs16932340	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57759707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57871763	0.87[AMR][1000 genomes]
rs58020170	0.87[AMR][1000 genomes]
rs58156571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59812763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73240781	0.86[EUR][1000 genomes]
rs73240793	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242914	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242917	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242942	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242949	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242959	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242968	0.87[AMR][1000 genomes]
rs73242971	0.87[AMR][1000 genomes]
rs73242973	0.87[AMR][1000 genomes]
rs73242975	0.87[AMR][1000 genomes]
rs73242981	0.87[AMR][1000 genomes]
rs73242982	0.87[AMR][1000 genomes]
rs73242984	0.87[AMR][1000 genomes]
rs73244804	0.87[AMR][1000 genomes]
rs7463008	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66707800-66720200	Weak transcription	Aorta	Aorta
2	chr8:66711000-66721600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:66711000-66722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:66712600-66718000	Weak transcription	Stomach Mucosa	stomach
5	chr8:66713000-66717800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:66713000-66717800	Weak transcription	Fetal Heart	heart
7	chr8:66713000-66717800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:66713000-66718800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:66713200-66717800	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:66713200-66718800	Weak transcription	Psoas Muscle	Psoas
11	chr8:66713200-66719000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:66713200-66720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:66713400-66718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:66713400-66720200	Weak transcription	Right Atrium	heart
15	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:66713600-66718800	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:66713800-66718800	Weak transcription	Small Intestine	intestine
18	chr8:66713800-66721000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:66714000-66719800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:66714200-66723400	Weak transcription	Brain Germinal Matrix	brain
21	chr8:66714600-66719400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:66714800-66734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:66715000-66720000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:66715000-66720400	ZNF genes & repeats	GM12878-XiMat	blood
25	chr8:66715200-66718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:66715200-66720000	Weak transcription	Thymus	Thymus
27	chr8:66715400-66723400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:66715600-66717800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:66715800-66718000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr8:66716000-66721400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:66716000-66721800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:66716000-66721800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:66716200-66738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:66716400-66717800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:66716400-66719800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:66716400-66723600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:66716600-66717800	Enhancers	Primary T cells from cord blood	blood
38	chr8:66716600-66717800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:66716600-66718200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:66716600-66721400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:66716600-66723200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:66716800-66717800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:66716800-66718200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr8:66717000-66718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:66717000-66718000	Strong transcription	Primary B cells from cord blood	blood
46	chr8:66717000-66718000	Enhancers	Gastric	stomach
47	chr8:66717000-66718000	Enhancers	Left Ventricle	heart
48	chr8:66717000-66718000	Enhancers	Pancreas	Pancrea
49	chr8:66717000-66719200	Weak transcription	Fetal Thymus	thymus
50	chr8:66717000-66720000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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