Variant report

Variant	rs7228720
Chromosome Location	chr18:13270788-13270789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13268397..13272481-chr18:13273229..13276163,4	MCF-7	breast:
2	chr18:13269904..13272111-chr18:13272211..13274676,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10775420	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10853230	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080640	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080641	0.90[CEU][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11662800	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457309	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28563139	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4796974	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs56078702	0.89[ASN][1000 genomes]
rs7232054	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8093127	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv909410	chr18:13151544-13308950	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13243600-13278200	Weak transcription	Dnd41	blood
2	chr18:13259200-13280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:13261200-13282200	Weak transcription	Small Intestine	intestine
4	chr18:13263800-13272600	Enhancers	Fetal Heart	heart
5	chr18:13266200-13271400	Enhancers	Brain Germinal Matrix	brain
6	chr18:13266400-13272600	Enhancers	Fetal Stomach	stomach
7	chr18:13266800-13270800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr18:13266800-13271200	Enhancers	Primary T cells from cord blood	blood
9	chr18:13266800-13271400	Weak transcription	Esophagus	oesophagus
10	chr18:13266800-13271800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr18:13267000-13271000	Enhancers	Brain Anterior Caudate	brain
12	chr18:13267200-13276000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr18:13267400-13272800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:13267800-13272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:13268200-13272200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr18:13268400-13271400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr18:13268400-13272200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:13268400-13276800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:13268600-13273200	Enhancers	Fetal Lung	lung
20	chr18:13268600-13273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:13268600-13276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr18:13269200-13270800	Enhancers	Fetal Intestine Small	intestine
23	chr18:13269200-13270800	Enhancers	Fetal Muscle Leg	muscle
24	chr18:13269200-13272200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr18:13269200-13272400	Enhancers	Fetal Muscle Trunk	muscle
26	chr18:13269400-13270800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr18:13269400-13280000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:13269600-13272400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr18:13269600-13272800	Enhancers	Right Atrium	heart
30	chr18:13269600-13273800	Weak transcription	Fetal Brain Female	brain
31	chr18:13269600-13274400	Enhancers	Right Ventricle	heart
32	chr18:13269600-13274600	Enhancers	Left Ventricle	heart
33	chr18:13269800-13271200	Genic enhancers	Fetal Thymus	thymus
34	chr18:13270000-13270800	Enhancers	Adipose Nuclei	Adipose
35	chr18:13270000-13270800	Enhancers	Gastric	stomach
36	chr18:13270000-13272400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr18:13270000-13272400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr18:13270000-13272400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:13270000-13273200	Enhancers	Colon Smooth Muscle	Colon
40	chr18:13270000-13274000	Weak transcription	Fetal Kidney	kidney
41	chr18:13270000-13274600	Enhancers	HepG2	liver
42	chr18:13270000-13276600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr18:13270000-13276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:13270000-13279200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:13270000-13279800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr18:13270000-13283800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr18:13270000-13290000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:13270200-13270800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:13270200-13270800	Enhancers	Liver	Liver
50	chr18:13270200-13271000	Enhancers	Primary T cells fromperipheralblood	blood

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