Variant report

Variant	rs547282
Chromosome Location	chr11:65910365-65910366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65901646..65904631-chr11:65908270..65911227,4	MCF-7	breast:
2	chr11:65904866..65907963-chr11:65908725..65912657,6	MCF-7	breast:
3	chr11:65906596..65908617-chr11:65908923..65911707,2	K562	blood:
4	chr11:65910186..65911941-chr11:65921532..65923148,2	MCF-7	breast:
5	chr11:65777780..65780340-chr11:65909339..65912310,2	K562	blood:
6	chr11:65827364..65830202-chr11:65909071..65911937,2	MCF-7	breast:
7	chr11:65781033..65783841-chr11:65908931..65911172,2	MCF-7	breast:
8	chr11:65908482..65910838-chr11:65913750..65916092,2	MCF-7	breast:
9	chr11:65909178..65910737-chr11:65912295..65914577,2	MCF-7	breast:
10	chr11:65892766..65895679-chr11:65910292..65912034,2	MCF-7	breast:
11	chr11:65835157..65840095-chr11:65905234..65913819,10	MCF-7	breast:
12	chr11:65836536..65839274-chr11:65910260..65911810,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000087365	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175315	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes]
rs1783562	0.92[AFR][1000 genomes]
rs1783732	1.00[YRI][hapmap]
rs2430981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[YRI][hapmap];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]
rs4523703	0.83[YRI][hapmap]
rs471709	1.00[YRI][hapmap];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[YRI][hapmap];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	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs512316	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532265	0.86[AFR][1000 genomes]
rs541954	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs547892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs555826	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs559298	1.00[YRI][hapmap]
rs560105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560983	0.83[AFR][1000 genomes]
rs561199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	1.00[YRI][hapmap];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]
rs948358	1.00[YRI][hapmap]
rs948477	1.00[YRI][hapmap];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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65894800-65912200	Weak transcription	Thymus	Thymus
2	chr11:65895000-65913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:65895000-65917600	Weak transcription	HSMM	muscle
4	chr11:65895200-65912200	Weak transcription	Lung	lung
5	chr11:65895200-65913000	Weak transcription	Psoas Muscle	Psoas
6	chr11:65896600-65912800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:65898400-65913000	Weak transcription	Spleen	Spleen
8	chr11:65901000-65919400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:65901200-65910800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:65902000-65912800	Weak transcription	Right Atrium	heart
11	chr11:65902200-65910400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:65905200-65910400	Weak transcription	Fetal Heart	heart
13	chr11:65905200-65913000	Weak transcription	Aorta	Aorta
14	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
15	chr11:65905400-65911000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:65905400-65939600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:65905600-65910400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:65905600-65912600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:65905800-65910600	Weak transcription	Small Intestine	intestine
20	chr11:65905800-65924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
22	chr11:65906000-65912800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:65907800-65910800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65907800-65912000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:65907800-65912200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:65907800-65912200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:65908000-65910400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:65908000-65911800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:65908800-65910400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:65909000-65910600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:65909000-65911800	Enhancers	K562	blood
33	chr11:65909000-65913400	Enhancers	Stomach Mucosa	stomach
34	chr11:65909200-65910600	Enhancers	Osteobl	bone
35	chr11:65909200-65911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:65909200-65911800	Enhancers	GM12878-XiMat	blood
37	chr11:65909400-65910400	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:65909400-65911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:65909400-65911000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:65909400-65911400	Enhancers	Pancreas	Pancrea
41	chr11:65909600-65910400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:65909600-65910600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:65909600-65910800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:65909600-65911000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr11:65909600-65911000	Flanking Active TSS	A549	lung
46	chr11:65909600-65911200	Enhancers	HMEC	breast
47	chr11:65909600-65911600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:65909600-65913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:65909800-65910400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:65909800-65910400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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