Variant report

Variant	rs549228
Chromosome Location	chr11:65963559-65963560
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	chr11:65900786..65903675-chr11:65962216..65963909,2	MCF-7	breast:
2	chr11:65956435..65961151-chr11:65961394..65965581,4	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1151532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes]
rs1203551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes]
rs1783562	0.92[AFR][1000 genomes]
rs2430981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.85[AFR][1000 genomes]
rs3017606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes]
rs502898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	0.85[AFR][1000 genomes]
rs512316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532265	0.86[AFR][1000 genomes]
rs541954	1.00[AMR][1000 genomes]
rs547282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[AMR][1000 genomes]
rs555826	0.85[AFR][1000 genomes]
rs560105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560983	0.83[AFR][1000 genomes]
rs561199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.92[AFR][1000 genomes]
rs693382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes]
rs948477	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3332923	chr11:65961593-65981589	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65929600-65977800	Weak transcription	HSMMtube	muscle
2	chr11:65938400-65978000	Weak transcription	Aorta	Aorta
3	chr11:65940000-65978000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:65940400-65978000	Weak transcription	Esophagus	oesophagus
5	chr11:65944400-65977800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:65944600-65963600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:65949800-65977800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:65950200-65978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:65952200-65967400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:65952400-65967800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:65953000-65966200	Strong transcription	Primary T cells from cord blood	blood
12	chr11:65956400-65967400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:65957000-65978400	Weak transcription	Brain Angular Gyrus	brain
14	chr11:65957400-65966000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:65958400-65967400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:65958400-65967600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:65958800-65977800	Weak transcription	Lung	lung
18	chr11:65958800-65978600	Weak transcription	Pancreas	Pancrea
19	chr11:65958800-65983600	Weak transcription	Small Intestine	intestine
20	chr11:65958800-65989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:65959000-65965800	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:65959200-65967800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:65959200-65989400	Weak transcription	K562	blood
24	chr11:65959400-65983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:65959600-65965600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:65959600-65966200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:65959600-65968400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:65959600-65978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:65959600-65983600	Weak transcription	Colonic Mucosa	Colon
30	chr11:65959800-65964000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:65959800-65966200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:65959800-65966200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:65959800-65967000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:65960000-65963800	Strong transcription	Fetal Stomach	stomach
35	chr11:65960000-65965400	Weak transcription	Fetal Lung	lung
36	chr11:65960000-65966200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:65960200-65964000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:65960200-65966000	Strong transcription	Primary B cells from cord blood	blood
39	chr11:65960200-65968000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:65960200-65977800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:65960200-65978000	Weak transcription	Right Ventricle	heart
42	chr11:65960200-65984000	Weak transcription	Fetal Heart	heart
43	chr11:65960400-65963600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:65960400-65965800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:65960400-65966000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:65960400-65966000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:65960400-65966400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:65960400-65966800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:65960400-65967200	Weak transcription	Fetal Intestine Large	intestine
50	chr11:65960400-65967400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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