Variant report

Variant	rs7229066
Chromosome Location	chr18:13501672-13501673
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr18:13500961-13501808	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr18:13501062-13501682	ECC-1	luminal epithelium:	n/a	n/a
3	ZBTB7A	chr18:13500846-13501782	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr18:13501131-13501678	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr18:13500917-13501783	ECC-1	luminal epithelium:	n/a	chr18:13501345-13501361
6	TCF12	chr18:13500910-13501732	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr18:13501156-13501709	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr18:13501069-13501733	ECC-1	luminal epithelium:	n/a	chr18:13501345-13501361
9	TCF12	chr18:13501007-13501770	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr18:13500917-13501843	ECC-1	luminal epithelium:	n/a	n/a
11	KAP1	chr18:13500387-13502262	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13501587..13502377-chr20:49407207..49408186,2	MCF-7	breast:
2	chr18:13217819..13219889-chr18:13500285..13503247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267366	TF binding region
ENSG00000168675	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11661363	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12606866	0.84[AFR][1000 genomes]
rs17610923	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17681051	1.00[ASN][1000 genomes]
rs55696103	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737069	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55787036	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830108	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505817	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72880635	1.00[ASN][1000 genomes]
rs72880646	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092260	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13467400-13502200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr18:13470800-13501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr18:13471000-13537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:13483800-13502600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr18:13492000-13502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr18:13495200-13502000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr18:13498800-13503600	Weak transcription	Colonic Mucosa	Colon
8	chr18:13499200-13505800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:13499400-13505400	Genic enhancers	Fetal Thymus	thymus
10	chr18:13499400-13506000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr18:13499600-13501800	Enhancers	Lung	lung
12	chr18:13499600-13503400	Enhancers	Liver	Liver
13	chr18:13499600-13503400	Enhancers	Left Ventricle	heart
14	chr18:13499600-13503800	Enhancers	Fetal Brain Male	brain
15	chr18:13499600-13506000	Weak transcription	Primary B cells from cord blood	blood
16	chr18:13499600-13539200	Weak transcription	Gastric	stomach
17	chr18:13499800-13503400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr18:13499800-13514200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr18:13499800-13531000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:13500000-13501800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:13500000-13502000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr18:13500000-13516800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr18:13500200-13501800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:13500200-13501800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:13500200-13501800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr18:13500200-13502000	Enhancers	Placenta	Placenta
27	chr18:13500400-13502000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr18:13500400-13502200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:13500400-13502600	Enhancers	Thymus	Thymus
30	chr18:13500400-13517400	Weak transcription	Spleen	Spleen
31	chr18:13500600-13501800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:13500600-13501800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
33	chr18:13500600-13502200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:13500600-13502400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr18:13500600-13502400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr18:13500600-13502400	Active TSS	Aorta	Aorta
37	chr18:13500600-13502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr18:13500600-13503200	Enhancers	Fetal Lung	lung
39	chr18:13500800-13501800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr18:13500800-13501800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:13500800-13501800	Enhancers	Brain Angular Gyrus	brain
42	chr18:13500800-13501800	Enhancers	Brain Cingulate Gyrus	brain
43	chr18:13500800-13501800	Bivalent Enhancer	Osteobl	bone
44	chr18:13500800-13502000	Enhancers	Colon Smooth Muscle	Colon
45	chr18:13500800-13502200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:13500800-13502600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr18:13500800-13503000	Enhancers	Adipose Nuclei	Adipose
48	chr18:13500800-13503000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:13500800-13505000	Enhancers	Fetal Muscle Leg	muscle
50	chr18:13500800-13505000	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links