Variant report

Variant	rs59206866
Chromosome Location	chr1:223923543-223923544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223919205..223921124-chr1:223921422..223926352,4	K562	blood:
2	chr1:223919304..223920937-chr1:223921422..223924041,2	K562	blood:
3	chr1:223906912..223908483-chr1:223923323..223925771,2	MCF-7	breast:
4	chr1:223898782..223903083-chr1:223918027..223924082,6	K562	blood:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12022934	0.98[ASN][1000 genomes]
rs12023822	0.98[ASN][1000 genomes]
rs12025088	0.88[ASN][1000 genomes]
rs12034645	0.82[ASN][1000 genomes]
rs12036573	0.82[ASN][1000 genomes]
rs12037507	0.98[ASN][1000 genomes]
rs12046438	0.98[ASN][1000 genomes]
rs12048989	0.88[ASN][1000 genomes]
rs1222142	0.83[ASN][1000 genomes]
rs28370041	0.98[ASN][1000 genomes]
rs8179303	0.82[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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223915200-223930800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:223915400-223927200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:223915400-223936200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:223915800-223931600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:223916600-223927000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:223916600-223932600	Weak transcription	Fetal Brain Female	brain
9	chr1:223918400-223924000	Enhancers	Right Atrium	heart
10	chr1:223919200-223935600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:223919200-223936200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:223919600-223924000	Strong transcription	HMEC	breast
13	chr1:223919600-223924800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:223919800-223924800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:223919800-223925000	Weak transcription	HSMMtube	muscle
16	chr1:223919800-223926000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:223919800-223931200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:223921000-223924000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:223921200-223924800	Weak transcription	Placenta	Placenta
20	chr1:223921200-223927800	Genic enhancers	A549	lung
21	chr1:223921200-223932800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:223921200-223936000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:223921400-223926000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:223921400-223931400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:223921600-223924400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:223921600-223926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:223921600-223926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:223921600-223926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:223921600-223932800	Weak transcription	Liver	Liver
30	chr1:223921600-223936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:223921800-223923800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:223921800-223923800	Strong transcription	Esophagus	oesophagus
33	chr1:223921800-223924800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:223921800-223925400	Genic enhancers	Lung	lung
35	chr1:223921800-223926000	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:223921800-223933400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:223921800-223935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:223921800-223936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:223922200-223924200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:223922200-223925800	Weak transcription	Fetal Kidney	kidney
41	chr1:223922200-223926200	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:223922200-223926400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:223922200-223934600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:223922200-223935600	Weak transcription	Fetal Brain Male	brain
45	chr1:223922400-223923600	Weak transcription	Left Ventricle	heart
46	chr1:223922400-223923600	Weak transcription	Right Ventricle	heart
47	chr1:223922400-223923800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:223922400-223923800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:223922400-223923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:223922400-223924800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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