Variant report

Variant	rs17598047
Chromosome Location	chr18:12816547-12816548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12810815..12813170-chr18:12815454..12817279,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10502414	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10502415	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1065630	0.89[EUR][1000 genomes]
rs16939859	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17597893	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17656120	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17656142	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17657106	0.83[CEU][hapmap];0.93[EUR][1000 genomes]
rs2542171	1.00[ASN][1000 genomes]
rs2847288	0.90[CEU][hapmap]
rs45458596	0.90[EUR][1000 genomes]
rs45506596	0.91[EUR][1000 genomes]
rs45510799	0.91[EUR][1000 genomes]
rs45518232	0.92[EUR][1000 genomes]
rs45518540	0.91[EUR][1000 genomes]
rs45575332	0.92[EUR][1000 genomes]
rs45576131	0.82[EUR][1000 genomes]
rs45602843	0.93[EUR][1000 genomes]
rs45626137	0.92[EUR][1000 genomes]
rs57450722	0.94[EUR][1000 genomes]
rs57528860	0.92[EUR][1000 genomes]
rs59368414	0.94[EUR][1000 genomes]
rs59698881	0.94[EUR][1000 genomes]
rs60617398	0.92[EUR][1000 genomes]
rs73402502	0.92[EUR][1000 genomes]
rs73404411	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73404414	0.94[EUR][1000 genomes]
rs73404420	0.94[EUR][1000 genomes]
rs73404421	0.94[EUR][1000 genomes]
rs73404424	0.94[EUR][1000 genomes]
rs73404453	0.94[EUR][1000 genomes]
rs73414061	0.90[EUR][1000 genomes]
rs8084006	0.94[EUR][1000 genomes]
rs8085163	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs8088256	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs8092305	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs973767	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
8	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12776800-12819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
3	chr18:12789000-12821400	Weak transcription	Small Intestine	intestine
4	chr18:12790200-12828000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr18:12790600-12820000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:12791200-12819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:12791400-12819600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
9	chr18:12791600-12828000	Weak transcription	HUVEC	blood vessel
10	chr18:12791800-12821600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:12792800-12819600	Weak transcription	NHLF	lung
12	chr18:12797800-12819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:12802000-12842400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr18:12806400-12816600	Strong transcription	Primary B cells from cord blood	blood
15	chr18:12806400-12827600	Strong transcription	Dnd41	blood
16	chr18:12806800-12827400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr18:12807200-12819600	Weak transcription	Brain Substantia Nigra	brain
18	chr18:12807200-12826600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr18:12807200-12842400	Weak transcription	Fetal Heart	heart
20	chr18:12807400-12821400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:12807800-12817400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr18:12808400-12818800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr18:12808400-12818800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr18:12808600-12827400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr18:12808800-12817400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr18:12808800-12817800	Strong transcription	Placenta	Placenta
27	chr18:12808800-12818400	Strong transcription	Primary T cells from cord blood	blood
28	chr18:12808800-12819000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr18:12808800-12827200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr18:12809000-12817200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr18:12809000-12817200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:12809000-12817600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr18:12809000-12817800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:12809000-12828000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr18:12809000-12828000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr18:12809400-12819600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:12809400-12819800	Weak transcription	Brain Hippocampus Middle	brain
38	chr18:12809600-12824600	Weak transcription	Esophagus	oesophagus
39	chr18:12809600-12825200	Weak transcription	Aorta	Aorta
40	chr18:12809600-12828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:12809600-12833200	Weak transcription	HSMM	muscle
42	chr18:12809600-12838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr18:12809600-12838200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr18:12810600-12818000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr18:12811000-12818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:12811200-12821800	Weak transcription	Stomach Mucosa	stomach
47	chr18:12811600-12818000	Strong transcription	Fetal Intestine Large	intestine
48	chr18:12811600-12819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr18:12811600-12828000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr18:12811800-12827400	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links