Variant report

Variant	rs10875054
Chromosome Location	chr1:97660277-97660278
allele	C/T
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:37)

rs_ID	r²[population]
rs10430074	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875055	1.00[ASN][1000 genomes]
rs12127420	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413229	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413231	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413235	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1970142	1.00[ASN][1000 genomes]
rs28619552	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762412	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949945	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950023	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595937	1.00[ASN][1000 genomes]
rs6593632	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593635	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593636	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593637	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661442	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681752	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683351	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692424	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693034	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697132	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6700957	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67665424	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688913	1.00[ASN][1000 genomes]
rs7513333	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528359	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531100	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537668	1.00[ASN][1000 genomes]
rs7545506	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828052	1.00[ASN][1000 genomes]
rs828054	1.00[ASN][1000 genomes]
rs828058	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885622	1.00[ASN][1000 genomes]
rs914959	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97626600-97660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:97636000-97660400	Weak transcription	Right Ventricle	heart
3	chr1:97640000-97663000	Weak transcription	Esophagus	oesophagus
4	chr1:97649000-97661200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:97649600-97662400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:97651800-97669800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:97653400-97660800	Weak transcription	Ovary	ovary
8	chr1:97654200-97671200	Weak transcription	Small Intestine	intestine
9	chr1:97656200-97668000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:97656600-97664400	Weak transcription	Fetal Brain Male	brain
11	chr1:97657200-97671200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:97657400-97664800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:97658400-97660600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:97658800-97662400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:97658800-97665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:97658800-97669400	Weak transcription	Fetal Lung	lung
17	chr1:97658800-97669600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:97658800-97669800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:97658800-97672400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:97658800-97695600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:97659000-97660600	Weak transcription	Lung	lung
22	chr1:97659000-97665800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:97659000-97697000	Weak transcription	Liver	Liver
24	chr1:97659200-97660800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:97659200-97660800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:97659200-97661400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:97659200-97663200	Weak transcription	Psoas Muscle	Psoas
28	chr1:97659200-97669600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:97659400-97660800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:97659400-97661000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:97659400-97662000	Weak transcription	NH-A	brain
32	chr1:97659400-97662400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:97659400-97663800	Weak transcription	Dnd41	blood
34	chr1:97659400-97664400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:97659400-97665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:97659400-97678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:97659600-97662200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:97659600-97663400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:97659800-97671400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:97659800-97696000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:97660200-97663200	Weak transcription	Primary T cells from cord blood	blood

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