Variant report

Variant	rs57339033
Chromosome Location	chr1:169361553-169361554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16862089	1.00[AMR][1000 genomes]
rs16862091	1.00[AMR][1000 genomes]
rs16862101	1.00[AMR][1000 genomes]
rs57556667	1.00[AMR][1000 genomes]
rs58003088	1.00[AMR][1000 genomes]
rs58149696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58775541	1.00[AMR][1000 genomes]
rs58860567	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656776	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664612	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687062	1.00[AMR][1000 genomes]
rs73034687	1.00[AMR][1000 genomes]
rs73034701	1.00[AMR][1000 genomes]
rs73035376	1.00[AMR][1000 genomes]
rs73035381	1.00[AMR][1000 genomes]
rs73036804	1.00[AMR][1000 genomes]
rs73036820	1.00[AMR][1000 genomes]
rs73036830	1.00[AMR][1000 genomes]
rs73036833	1.00[AMR][1000 genomes]
rs73036856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041774	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051105	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051107	1.00[AMR][1000 genomes]
rs7417281	1.00[AMR][1000 genomes]
rs7534851	0.96[AFR][1000 genomes];1.00[AMR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338000-169365200	Weak transcription	Gastric	stomach
2	chr1:169338000-169365600	Weak transcription	Pancreas	Pancrea
3	chr1:169338200-169362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:169338200-169363600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:169338200-169363600	Weak transcription	Stomach Mucosa	stomach
6	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:169338400-169362600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:169340400-169366000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:169341200-169367400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:169344800-169362600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:169344800-169365400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:169345000-169366000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:169345400-169366000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:169345600-169366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:169345800-169365000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:169345800-169365400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:169345800-169366000	Strong transcription	Placenta	Placenta
18	chr1:169345800-169366400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:169346600-169363400	Weak transcription	Right Ventricle	heart
20	chr1:169346600-169365400	Weak transcription	HepG2	liver
21	chr1:169346800-169363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:169347600-169362600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr1:169349400-169361600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:169349400-169362400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:169349400-169362400	Strong transcription	Fetal Thymus	thymus
26	chr1:169349400-169363800	Strong transcription	NHEK	skin
27	chr1:169349400-169364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:169349400-169366000	Strong transcription	Adipose Nuclei	Adipose
29	chr1:169349400-169367400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:169349600-169362200	Strong transcription	Dnd41	blood
31	chr1:169349600-169362400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:169349800-169362200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:169350200-169366800	Weak transcription	HSMMtube	muscle
34	chr1:169350200-169368600	Weak transcription	Colonic Mucosa	Colon
35	chr1:169351000-169362600	Strong transcription	Primary T cells from cord blood	blood
36	chr1:169351800-169364600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:169352400-169363600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr1:169352600-169365200	Weak transcription	Spleen	Spleen
39	chr1:169352800-169367400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:169353000-169363600	Weak transcription	Brain Angular Gyrus	brain
41	chr1:169353000-169365200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:169353000-169369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:169353400-169362600	Strong transcription	Liver	Liver
44	chr1:169354000-169364400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:169354000-169370000	Weak transcription	Aorta	Aorta
46	chr1:169354200-169361800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:169354800-169370600	Weak transcription	Fetal Kidney	kidney
48	chr1:169355400-169363400	Weak transcription	Small Intestine	intestine
49	chr1:169356000-169362200	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr1:169356200-169365400	Strong transcription	Duodenum Mucosa	Duodenum

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