Variant report

Variant	rs11551273
Chromosome Location	chr12:49223678-49223679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49219923..49221746-chr12:49222016..49224026,2	K562	blood:
2	chr12:49219851..49223699-chr12:49232971..49235406,3	MCF-7	breast:
3	chr12:49213927..49217997-chr12:49220866..49225081,6	K562	blood:
4	chr12:49223352..49226307-chr12:49326935..49329370,2	MCF-7	breast:
5	chr12:49220757..49224194-chr12:49244606..49248559,4	MCF-7	breast:
6	chr12:49211671..49216078-chr12:49223480..49227983,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174243	Chromatin interaction
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11534	1.00[EUR][1000 genomes]
rs11830117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830164	1.00[EUR][1000 genomes]
rs11830884	1.00[EUR][1000 genomes]
rs11831374	1.00[EUR][1000 genomes]
rs11832320	1.00[EUR][1000 genomes]
rs11833394	1.00[EUR][1000 genomes]
rs11833669	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	1.00[EUR][1000 genomes]
rs11837337	1.00[EUR][1000 genomes]
rs11837993	1.00[EUR][1000 genomes]
rs11838121	1.00[EUR][1000 genomes]
rs11838289	1.00[EUR][1000 genomes]
rs11838360	1.00[EUR][1000 genomes]
rs17123267	1.00[EUR][1000 genomes]
rs17123398	1.00[EUR][1000 genomes]
rs34139009	1.00[EUR][1000 genomes]
rs36119652	1.00[EUR][1000 genomes]
rs55956587	1.00[EUR][1000 genomes]
rs56179964	1.00[EUR][1000 genomes]
rs57337154	1.00[EUR][1000 genomes]
rs57454425	1.00[EUR][1000 genomes]
rs57658152	1.00[EUR][1000 genomes]
rs59304927	1.00[EUR][1000 genomes]
rs59708884	1.00[EUR][1000 genomes]
rs60351852	1.00[EUR][1000 genomes]
rs71439468	1.00[EUR][1000 genomes]
rs7303057	1.00[EUR][1000 genomes]
rs7312311	1.00[EUR][1000 genomes]
rs7315319	1.00[EUR][1000 genomes]
rs74088131	1.00[EUR][1000 genomes]
rs74088137	1.00[EUR][1000 genomes]
rs74088163	1.00[EUR][1000 genomes]
rs74088167	1.00[EUR][1000 genomes]
rs74088185	1.00[EUR][1000 genomes]
rs74088186	1.00[EUR][1000 genomes]
rs74089357	1.00[EUR][1000 genomes]
rs74089364	1.00[EUR][1000 genomes]
rs7956989	1.00[EUR][1000 genomes]
rs7959705	1.00[EUR][1000 genomes]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	1.00[EUR][1000 genomes]
rs7973248	1.00[EUR][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	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
2	nsv976609	chr12:49223333-49224534	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region miRNA target site	2 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	chr12:49212800-49224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:49213000-49226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:49213000-49231200	Weak transcription	Right Atrium	heart
4	chr12:49213200-49223800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:49213200-49223800	Weak transcription	HSMM	muscle
6	chr12:49213400-49224800	Weak transcription	Fetal Kidney	kidney
7	chr12:49213400-49226000	Weak transcription	Psoas Muscle	Psoas
8	chr12:49214600-49234800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
10	chr12:49215400-49235400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:49215800-49235000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:49216200-49235400	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:49216400-49224200	Weak transcription	Small Intestine	intestine
16	chr12:49216800-49228600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:49216800-49234200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:49216800-49235400	Strong transcription	Fetal Intestine Large	intestine
19	chr12:49216800-49238600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:49217000-49234200	Strong transcription	Ovary	ovary
24	chr12:49217000-49234400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:49217000-49234400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:49217000-49234800	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr12:49217000-49235200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
29	chr12:49217200-49228400	Strong transcription	Colonic Mucosa	Colon
30	chr12:49217200-49228400	Strong transcription	NHLF	lung
31	chr12:49217200-49234400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:49217200-49235000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:49217200-49235400	Strong transcription	Adipose Nuclei	Adipose
34	chr12:49217200-49235600	Strong transcription	Placenta	Placenta
35	chr12:49217400-49235000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:49217400-49235200	Strong transcription	Brain Germinal Matrix	brain
37	chr12:49217400-49235200	Strong transcription	Thymus	Thymus
38	chr12:49217400-49235400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:49217400-49241000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:49217600-49234800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:49217800-49235000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:49218000-49234400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:49218000-49235000	Strong transcription	Dnd41	blood
44	chr12:49218200-49228600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr12:49218200-49241200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:49218400-49223800	Weak transcription	K562	blood
47	chr12:49218400-49235400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:49219000-49234200	Strong transcription	Primary T cells from cord blood	blood
49	chr12:49219000-49234800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:49219800-49234200	Strong transcription	Gastric	stomach

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