Variant report

Variant	rs1228007
Chromosome Location	chr11:47963282-47963283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47660831..47663188-chr11:47962801..47965480,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12275829	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228005	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1228006	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1228014	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1228015	0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228028	1.00[MEX][hapmap]
rs1228050	1.00[MEX][hapmap]
rs12282774	1.00[MEX][hapmap]
rs1234515	1.00[MEX][hapmap]
rs1238706	1.00[MEX][hapmap]
rs13328902	1.00[MEX][hapmap]
rs1681625	1.00[MEX][hapmap]
rs1729288	1.00[MEX][hapmap]
rs2697813	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930182	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2930190	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7125276	1.00[MEX][hapmap]
rs7129454	1.00[MEX][hapmap]
rs7130715	1.00[MEX][hapmap]
rs900696	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47950400-47963600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:47950800-47971800	Weak transcription	Fetal Thymus	thymus
3	chr11:47954400-47968200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:47956800-47970200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:47957800-47963400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:47959800-47963400	Enhancers	A549	lung
7	chr11:47959800-47968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:47960000-47965400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:47960000-47966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:47960000-47967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:47960000-47967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:47960000-47967800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:47960000-47972400	Weak transcription	Lung	lung
14	chr11:47960800-47963400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:47960800-47965800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:47961200-47965600	Weak transcription	NH-A	brain
17	chr11:47961400-47964400	Enhancers	Hela-S3	cervix
18	chr11:47961400-47965600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:47961400-47965600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:47961400-47965600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:47961400-47965800	Weak transcription	NHDF-Ad	bronchial
22	chr11:47961400-47965800	Weak transcription	NHLF	lung
23	chr11:47961400-47965800	Weak transcription	Osteobl	bone
24	chr11:47961800-47965600	Weak transcription	HUVEC	blood vessel
25	chr11:47962400-47964600	Enhancers	Liver	Liver
26	chr11:47962600-47963600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:47962600-47964000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:47962600-47964000	Enhancers	K562	blood
29	chr11:47962600-47964200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:47962600-47964400	Enhancers	HepG2	liver
31	chr11:47962800-47963400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:47962800-47963600	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:47962800-47964400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:47963000-47963600	Enhancers	Brain Hippocampus Middle	brain
35	chr11:47963000-47963600	Enhancers	Brain Substantia Nigra	brain
36	chr11:47963000-47963600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr11:47963000-47964000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:47963000-47965800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:47963200-47963800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:47963200-47964000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:47963200-47964000	Enhancers	Brain Anterior Caudate	brain
42	chr11:47963200-47964000	Enhancers	GM12878-XiMat	blood
43	chr11:47963200-47964200	Enhancers	Placenta	Placenta
44	chr11:47963200-47964400	Enhancers	Primary B cells from cord blood	blood
45	chr11:47963200-47965800	Weak transcription	Muscle Satellite Cultured Cells	--

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