Variant report

Variant	rs12033253
Chromosome Location	chr1:169357866-169357867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169352378..169354571-chr1:169356880..169358619,2	K562	blood:
2	chr1:169346482..169351680-chr1:169353078..169360345,13	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10158131	0.82[CEU][hapmap]
rs10489187	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10489188	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800439	0.86[CHB][hapmap]
rs10800441	0.86[CHB][hapmap]
rs10919140	0.95[YRI][hapmap]
rs10919146	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10919155	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10919163	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11799936	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11799948	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11800843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11808015	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11808274	0.89[JPT][hapmap]
rs11809378	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12021770	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12023025	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12023117	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12023892	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12024897	0.86[CHB][hapmap]
rs12026728	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12026996	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12028813	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029853	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12030320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12032201	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12036968	0.81[JPT][hapmap]
rs12037211	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12038609	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12039443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12043489	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12046139	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs12049227	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12239720	0.81[ASN][1000 genomes]
rs1400838	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1415928	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1589113	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16828170	0.89[JPT][hapmap]
rs16862118	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16862172	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16862199	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs1980198	0.86[CHB][hapmap]
rs2235195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2268048	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2275299	0.86[CHB][hapmap]
rs2300157	0.91[YRI][hapmap]
rs28566091	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35269183	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737682	0.85[CHB][hapmap]
rs3766089	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3818844	0.86[CHB][hapmap]
rs4656670	0.86[CHB][hapmap]
rs56859218	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61807018	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61808977	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61808978	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61808980	0.81[ASN][1000 genomes]
rs6427191	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6656923	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6669741	0.85[CHB][hapmap]
rs6677410	0.86[CHB][hapmap]
rs6690801	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696810	0.86[CHB][hapmap]
rs72702156	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72702179	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72702188	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7534737	0.86[CHB][hapmap]
rs7535788	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7539415	0.86[CHB][hapmap]
rs7554703	0.97[ASN][1000 genomes]
rs9659035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338000-169358000	Weak transcription	Esophagus	oesophagus
2	chr1:169338000-169360000	Weak transcription	Fetal Heart	heart
3	chr1:169338000-169360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:169338000-169365200	Weak transcription	Gastric	stomach
5	chr1:169338000-169365600	Weak transcription	Pancreas	Pancrea
6	chr1:169338200-169360400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:169338200-169360400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:169338200-169362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:169338200-169363600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:169338200-169363600	Weak transcription	Stomach Mucosa	stomach
11	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:169338400-169360200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:169338400-169362600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:169340400-169366000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:169341200-169367400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:169344200-169360200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:169344800-169359200	Strong transcription	HSMM	muscle
18	chr1:169344800-169361200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:169344800-169362600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:169344800-169365400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:169345000-169360800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:169345000-169366000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:169345400-169366000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:169345600-169360800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:169345600-169366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:169345800-169360800	Strong transcription	NH-A	brain
27	chr1:169345800-169365000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:169345800-169365400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:169345800-169366000	Strong transcription	Placenta	Placenta
30	chr1:169345800-169366400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:169346600-169363400	Weak transcription	Right Ventricle	heart
32	chr1:169346600-169365400	Weak transcription	HepG2	liver
33	chr1:169346800-169360200	Weak transcription	Psoas Muscle	Psoas
34	chr1:169346800-169363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:169347600-169362600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:169349400-169361000	Strong transcription	Osteobl	bone
37	chr1:169349400-169361600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:169349400-169362400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:169349400-169362400	Strong transcription	Fetal Thymus	thymus
40	chr1:169349400-169363800	Strong transcription	NHEK	skin
41	chr1:169349400-169364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:169349400-169366000	Strong transcription	Adipose Nuclei	Adipose
43	chr1:169349400-169367400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:169349600-169358800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:169349600-169361000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:169349600-169362200	Strong transcription	Dnd41	blood
47	chr1:169349600-169362400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:169349800-169362200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:169350200-169366800	Weak transcription	HSMMtube	muscle
50	chr1:169350200-169368600	Weak transcription	Colonic Mucosa	Colon

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