Variant report

Variant	rs17359859
Chromosome Location	chr5:112118791-112118792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17135067	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17135193	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17285372	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17285666	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17285827	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17286230	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17290064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311019	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311096	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17357294	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360045	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369487	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17370550	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17371015	0.86[EUR][1000 genomes]
rs1833560	0.80[EUR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56052440	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235416	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321569	0.86[EUR][1000 genomes]
rs56328836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56405915	0.87[EUR][1000 genomes]
rs57043077	1.00[EUR][1000 genomes]
rs60532731	0.87[EUR][1000 genomes]
rs73216225	0.86[EUR][1000 genomes]
rs73220038	1.00[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7704566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730441	0.80[EUR][1000 genomes]
rs7730944	1.00[AMR][1000 genomes];0.86[EUR][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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
6	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:112093400-112128600	Weak transcription	Ovary	ovary
8	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:112095200-112122400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:112097800-112127000	Weak transcription	Esophagus	oesophagus
14	chr5:112098000-112128600	Weak transcription	HepG2	liver
15	chr5:112098200-112128600	Weak transcription	Aorta	Aorta
16	chr5:112098200-112129800	Weak transcription	Spleen	Spleen
17	chr5:112098400-112130000	Weak transcription	Fetal Heart	heart
18	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:112098800-112122400	Weak transcription	A549	lung
20	chr5:112099600-112122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:112102200-112120400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112102400-112121000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:112102800-112119000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:112104400-112125600	Weak transcription	Fetal Intestine Small	intestine
27	chr5:112104600-112128600	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
29	chr5:112104800-112128000	Weak transcription	Hela-S3	cervix
30	chr5:112104800-112130800	Weak transcription	Stomach Mucosa	stomach
31	chr5:112105000-112128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:112105000-112128600	Weak transcription	Thymus	Thymus
33	chr5:112105200-112125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:112108200-112129200	Weak transcription	NH-A	brain
35	chr5:112108400-112130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:112109200-112120800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:112110400-112128800	Weak transcription	Brain Angular Gyrus	brain
38	chr5:112111000-112128600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:112112200-112128400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:112112200-112128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:112113400-112122200	Strong transcription	Primary B cells from cord blood	blood
42	chr5:112114000-112128400	Weak transcription	HSMMtube	muscle
43	chr5:112114600-112119000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:112114600-112120400	Strong transcription	Adipose Nuclei	Adipose
45	chr5:112115000-112123000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:112115200-112123400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:112115600-112134600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:112115800-112151200	Weak transcription	NHEK	skin
50	chr5:112116000-112118800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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