Variant report

Variant	rs2568027
Chromosome Location	chr11:8931093-8931094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8930312..8933119-chr11:9023959..9026944,2	K562	blood:
2	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
3	chr11:8703102..8705784-chr11:8929556..8931487,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200983	Chromatin interaction
ENSG00000253973	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000175352	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10840149	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840152	0.90[AMR][1000 genomes]
rs11042155	1.00[EUR][1000 genomes]
rs1989143	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2195812	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256067	1.00[EUR][1000 genomes]
rs2262323	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436178	1.00[EUR][1000 genomes]
rs2455603	0.82[YRI][hapmap]
rs2568021	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568023	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568024	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568026	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568030	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568036	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568041	1.00[EUR][1000 genomes]
rs2568055	1.00[EUR][1000 genomes]
rs2568058	1.00[EUR][1000 genomes]
rs2568060	1.00[EUR][1000 genomes]
rs2568063	1.00[EUR][1000 genomes]
rs2568072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568083	1.00[EUR][1000 genomes]
rs2653561	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653563	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653570	0.82[YRI][hapmap]
rs2653571	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653579	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2653583	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653584	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653585	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653588	0.93[YRI][hapmap]
rs2653600	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653605	0.82[YRI][hapmap]
rs2653608	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653614	1.00[EUR][1000 genomes]
rs2653615	1.00[EUR][1000 genomes]
rs2742469	1.00[EUR][1000 genomes]
rs2742476	0.83[AMR][1000 genomes]
rs2742479	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742480	0.80[YRI][hapmap]
rs2742482	1.00[EUR][1000 genomes]
rs2742507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742508	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742518	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742526	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742539	1.00[EUR][1000 genomes]
rs2742543	1.00[EUR][1000 genomes]
rs2742551	1.00[EUR][1000 genomes]
rs3105215	0.88[AFR][1000 genomes]
rs6416158	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6416159	1.00[EUR][1000 genomes]
rs7104415	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119887	0.80[AMR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396042	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396427	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7925728	0.82[YRI][hapmap]
rs7932678	0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936297	1.00[EUR][1000 genomes]
rs7950826	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8928800-8931800	Weak transcription	HSMM	muscle
2	chr11:8928800-8931800	Weak transcription	HSMMtube	muscle
3	chr11:8929000-8931200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:8929000-8931200	Weak transcription	NHDF-Ad	bronchial
5	chr11:8929000-8931400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:8929000-8931400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:8929000-8931400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:8929000-8931400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:8929000-8931400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:8929000-8931400	Enhancers	Hela-S3	cervix
11	chr11:8929000-8931400	Weak transcription	HMEC	breast
12	chr11:8929000-8931600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:8929400-8931200	Weak transcription	NH-A	brain
14	chr11:8929400-8931400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:8929400-8931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:8929400-8931600	Weak transcription	NHLF	lung
17	chr11:8929600-8931200	Weak transcription	Placenta	Placenta
18	chr11:8929600-8931400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:8929600-8931400	Enhancers	A549	lung
20	chr11:8930000-8931400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:8930000-8931400	Weak transcription	NHEK	skin
22	chr11:8930200-8931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:8930200-8931200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:8930200-8931200	Weak transcription	Brain Substantia Nigra	brain
25	chr11:8930200-8931600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:8930400-8931200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:8930400-8931800	Enhancers	Fetal Heart	heart
28	chr11:8930800-8931200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:8930800-8931200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:8930800-8931200	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:8930800-8931400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:8930800-8931400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:8930800-8931600	Enhancers	Psoas Muscle	Psoas
34	chr11:8931000-8931200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:8931000-8931400	Enhancers	Dnd41	blood
36	chr11:8931000-8931400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:8931000-8931600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:8931000-8931800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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