Variant report

Variant	rs59958527
Chromosome Location	chr1:210004926-210004927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11803135	1.00[EUR][1000 genomes]
rs58260740	1.00[EUR][1000 genomes]
rs60110781	1.00[EUR][1000 genomes]
rs73093837	1.00[EUR][1000 genomes]
rs73093866	1.00[EUR][1000 genomes]
rs73093874	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093876	1.00[EUR][1000 genomes]
rs73095703	1.00[EUR][1000 genomes]
rs7524534	1.00[EUR][1000 genomes]
rs7534109	1.00[EUR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210001800-210010200	Weak transcription	Spleen	Spleen
2	chr1:210001800-210025000	Weak transcription	Stomach Mucosa	stomach
3	chr1:210001800-210034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:210002000-210006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:210002000-210006000	Weak transcription	Gastric	stomach
6	chr1:210002000-210006200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:210002000-210006400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:210002000-210006600	Weak transcription	Esophagus	oesophagus
9	chr1:210002000-210006600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:210002000-210007000	Weak transcription	Colonic Mucosa	Colon
11	chr1:210002000-210007000	Weak transcription	Thymus	Thymus
12	chr1:210002000-210007200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:210002000-210011200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:210002000-210015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:210002000-210023800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:210002200-210005600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:210002200-210006600	Weak transcription	Right Ventricle	heart
18	chr1:210002400-210032000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:210002600-210006600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:210003000-210005200	Genic enhancers	NHEK	skin
21	chr1:210003000-210006000	Weak transcription	Fetal Stomach	stomach
22	chr1:210003000-210006200	Weak transcription	Lung	lung
23	chr1:210003000-210009800	Weak transcription	Small Intestine	intestine
24	chr1:210003000-210011000	Weak transcription	Fetal Heart	heart
25	chr1:210003000-210013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:210003200-210005000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:210003200-210006600	Weak transcription	Fetal Brain Male	brain
28	chr1:210003200-210006800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:210003200-210007600	Weak transcription	Psoas Muscle	Psoas
30	chr1:210003200-210017400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:210003200-210027800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:210003200-210028600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:210003200-210029400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:210003400-210006200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:210003400-210028000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:210003400-210028400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:210003600-210005400	Genic enhancers	HUVEC	blood vessel
38	chr1:210003600-210012200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:210003600-210028000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:210003800-210005000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:210003800-210005200	Genic enhancers	NH-A	brain
42	chr1:210003800-210005600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:210003800-210006400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:210003800-210011800	Strong transcription	A549	lung
45	chr1:210003800-210013200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:210003800-210028000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:210003800-210028200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:210003800-210028400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:210004000-210005200	Genic enhancers	Hela-S3	cervix
50	chr1:210004000-210005400	Strong transcription	Brain Hippocampus Middle	brain

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