Variant report

Variant	rs11168753
Chromosome Location	chr12:49236156-49236157
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	chr12:49210852..49213200-chr12:49233762..49236254,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045340	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1057908	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875879	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10875880	0.80[ASN][1000 genomes]
rs2453471	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2453472	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2453482	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59128273	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61941108	0.83[ASN][1000 genomes]
rs7164	0.82[AMR][1000 genomes];0.87[EUR][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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
2	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:49216800-49238600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
9	chr12:49217400-49241000	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:49218200-49241200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49220000-49239800	Strong transcription	Spleen	Spleen
12	chr12:49220000-49240000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:49220000-49241200	Strong transcription	Lung	lung
14	chr12:49221200-49243800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:49221800-49243200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:49222600-49244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:49222800-49236400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:49227000-49244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:49230400-49244200	Weak transcription	Fetal Heart	heart
20	chr12:49231400-49237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:49232400-49237400	Weak transcription	Right Ventricle	heart
22	chr12:49232400-49237600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:49232600-49237400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:49233400-49243600	Weak transcription	Stomach Mucosa	stomach
25	chr12:49233800-49237000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:49233800-49237000	Weak transcription	Colonic Mucosa	Colon
27	chr12:49233800-49237600	Weak transcription	Fetal Lung	lung
28	chr12:49234000-49237000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:49234000-49237000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:49234000-49237000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:49234000-49237000	Weak transcription	HSMMtube	muscle
32	chr12:49234000-49237400	Weak transcription	Brain Angular Gyrus	brain
33	chr12:49234000-49237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:49234000-49237600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:49234000-49237600	Weak transcription	Aorta	Aorta
36	chr12:49234000-49237600	Weak transcription	Brain Substantia Nigra	brain
37	chr12:49234000-49237600	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:49234000-49237600	Weak transcription	Small Intestine	intestine
39	chr12:49234000-49237600	Weak transcription	K562	blood
40	chr12:49234000-49239400	Weak transcription	Fetal Brain Male	brain
41	chr12:49234000-49244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:49234000-49244200	Weak transcription	NHDF-Ad	bronchial
43	chr12:49234000-49244400	Weak transcription	Psoas Muscle	Psoas
44	chr12:49234200-49237000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:49234200-49237000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:49234200-49237000	Weak transcription	Ovary	ovary
47	chr12:49234200-49237000	Weak transcription	Osteobl	bone
48	chr12:49234200-49237200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:49234200-49237200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:49234200-49237200	Weak transcription	GM12878-XiMat	blood

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