Variant report

Variant	rs999746
Chromosome Location	chr8:20294939-20294940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12056831	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17092374	0.90[EUR][1000 genomes]
rs17092434	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092492	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17092502	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092511	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17419795	0.85[EUR][1000 genomes]
rs2170171	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170172	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4506236	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921718	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4922194	0.90[EUR][1000 genomes]
rs4922195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922196	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4922210	0.80[EUR][1000 genomes]
rs58204896	0.90[EUR][1000 genomes]
rs58247975	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58430710	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59876773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60888624	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586915	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989281	0.80[EUR][1000 genomes]
rs6999584	0.80[EUR][1000 genomes]
rs6999736	0.80[EUR][1000 genomes]
rs7003097	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73609155	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73609159	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465534	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7827252	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827262	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830125	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs950511	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20291800-20296200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:20292000-20296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:20292400-20295000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:20292400-20296000	Enhancers	Primary T cells from cord blood	blood
5	chr8:20292600-20295200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr8:20292800-20295000	Enhancers	Fetal Brain Male	brain
7	chr8:20292800-20295400	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:20293000-20295000	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:20293000-20295000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:20293000-20295000	Enhancers	HMEC	breast
11	chr8:20293000-20295200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:20293000-20295200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:20293000-20295200	Enhancers	Fetal Thymus	thymus
14	chr8:20293000-20295200	Enhancers	Stomach Smooth Muscle	stomach
15	chr8:20293200-20295600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:20293200-20297000	Weak transcription	Right Atrium	heart
17	chr8:20293400-20298400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:20293600-20298400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:20293600-20298800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:20293600-20299000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:20293800-20295000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr8:20293800-20298600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:20294000-20295000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr8:20294000-20295000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:20294000-20295000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:20294000-20295000	Enhancers	Brain Hippocampus Middle	brain
27	chr8:20294000-20295000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr8:20294000-20295200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr8:20294000-20297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:20294200-20298400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:20294200-20301600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:20294400-20295000	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:20294400-20295000	Enhancers	Spleen	Spleen
34	chr8:20294400-20298600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:20294600-20295200	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:20294600-20295200	Enhancers	Stomach Mucosa	stomach
37	chr8:20294600-20295600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:20294600-20295800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:20294600-20296200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:20294600-20297000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:20294800-20295000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr8:20294800-20295000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr8:20294800-20295200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr8:20294800-20295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:20294800-20295800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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