Variant report

Variant	rs16962510
Chromosome Location	chr18:29419959-29419960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11872449	1.00[EUR][1000 genomes]
rs11875821	1.00[EUR][1000 genomes]
rs16962506	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962530	0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29406800-29431600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:29407400-29427400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:29407400-29429800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:29407400-29432000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:29407800-29431200	Weak transcription	Psoas Muscle	Psoas
8	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:29408400-29420800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:29408600-29420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:29409000-29420000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr18:29409000-29420000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr18:29409000-29439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:29409600-29430000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr18:29409600-29430600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr18:29409800-29432000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:29409800-29466600	Weak transcription	Gastric	stomach
20	chr18:29410400-29431400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr18:29411000-29426200	Weak transcription	Esophagus	oesophagus
22	chr18:29412600-29420800	Strong transcription	Primary B cells from cord blood	blood
23	chr18:29412800-29420200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr18:29412800-29420200	Strong transcription	Liver	Liver
25	chr18:29412800-29420200	Strong transcription	Dnd41	blood
26	chr18:29412800-29420400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr18:29413000-29420800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:29413000-29421000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr18:29413200-29420000	Strong transcription	Placenta	Placenta
30	chr18:29413200-29420600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr18:29413200-29437200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
33	chr18:29414200-29420000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:29414200-29444800	Strong transcription	Fetal Thymus	thymus
35	chr18:29414400-29420000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr18:29414400-29448200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:29415000-29420000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr18:29415600-29420800	Strong transcription	GM12878-XiMat	blood
39	chr18:29415800-29420400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
41	chr18:29416000-29432000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr18:29416200-29423000	Strong transcription	HSMM	muscle
43	chr18:29416200-29430000	Weak transcription	Lung	lung
44	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
45	chr18:29416400-29423800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr18:29416400-29424200	Weak transcription	Hela-S3	cervix
47	chr18:29416600-29427800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr18:29417000-29420000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:29417000-29420400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr18:29417400-29420200	Strong transcription	HUVEC	blood vessel

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