Variant report

Variant	rs6006092
Chromosome Location	chr22:29708816-29708817
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29708019..29709690-chr22:29721356..29724944,3	MCF-7	breast:
2	chr22:29707397..29709984-chr22:29754201..29756527,2	MCF-7	breast:
3	chr22:29708527..29710108-chr22:29782946..29784507,2	K562	blood:
4	chr22:29707630..29710061-chr22:29735092..29737688,2	K562	blood:
5	chr22:29706994..29708820-chr22:29714002..29716442,2	K562	blood:
6	chr22:29706961..29711668-chr22:29712911..29717067,5	MCF-7	breast:
7	chr22:29704698..29709036-chr22:29709270..29712865,10	MCF-7	breast:
8	chr22:29194146..29196945-chr22:29707934..29709820,2	MCF-7	breast:
9	chr22:29700857..29704420-chr22:29708764..29712339,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000100280	Chromatin interaction
ENSG00000100276	Chromatin interaction
ENSG00000273216	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11912931	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11913102	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12157995	1.00[AMR][1000 genomes]
rs2228323	1.00[AMR][1000 genomes]
rs2231395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997464	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs5997468	1.00[AMR][1000 genomes]
rs5997469	1.00[AMR][1000 genomes]
rs6006094	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006097	1.00[AMR][1000 genomes]
rs6006099	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006102	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6006117	1.00[AMR][1000 genomes]
rs60098244	1.00[AMR][1000 genomes]
rs60976358	1.00[AMR][1000 genomes]
rs7287665	1.00[AMR][1000 genomes]
rs8142725	1.00[AMR][1000 genomes]
rs8143120	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29703800-29709400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:29704000-29709600	Enhancers	Placenta	Placenta
3	chr22:29706600-29709200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:29706600-29711000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr22:29707000-29709000	Weak transcription	Small Intestine	intestine
6	chr22:29707400-29709200	Weak transcription	Liver	Liver
7	chr22:29707400-29709800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29707400-29710400	Weak transcription	K562	blood
9	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
10	chr22:29707600-29709000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:29707600-29709000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:29707600-29709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:29707600-29709000	Weak transcription	Left Ventricle	heart
14	chr22:29707600-29709000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:29707600-29709400	Enhancers	Brain Substantia Nigra	brain
16	chr22:29707600-29709400	Weak transcription	HepG2	liver
17	chr22:29707600-29710000	Bivalent Enhancer	Fetal Brain Male	brain
18	chr22:29707800-29709000	Enhancers	Brain Hippocampus Middle	brain
19	chr22:29707800-29709000	Genic enhancers	Colon Smooth Muscle	Colon
20	chr22:29707800-29709000	Weak transcription	Right Atrium	heart
21	chr22:29707800-29709200	Weak transcription	Ovary	ovary
22	chr22:29707800-29709200	Weak transcription	Psoas Muscle	Psoas
23	chr22:29707800-29709200	Enhancers	Stomach Smooth Muscle	stomach
24	chr22:29708000-29709000	Enhancers	Rectal Smooth Muscle	rectum
25	chr22:29708000-29709000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr22:29708000-29709200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:29708000-29709200	Weak transcription	Esophagus	oesophagus
28	chr22:29708000-29709200	Weak transcription	Pancreas	Pancrea
29	chr22:29708000-29709200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr22:29708000-29709200	Strong transcription	NHLF	lung
31	chr22:29708000-29709400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:29708000-29709400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29708000-29709600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:29708000-29709600	Weak transcription	HMEC	breast
35	chr22:29708000-29709800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:29708000-29710200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr22:29708000-29710400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:29708200-29709000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:29708200-29709000	Weak transcription	Brain Anterior Caudate	brain
40	chr22:29708200-29709000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr22:29708200-29709200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:29708200-29709200	Bivalent Enhancer	Colonic Mucosa	Colon
43	chr22:29708200-29709400	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr22:29708200-29709400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr22:29708400-29709200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:29708400-29709200	Weak transcription	Adipose Nuclei	Adipose
47	chr22:29708400-29709200	Strong transcription	NHDF-Ad	bronchial
48	chr22:29708400-29709400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr22:29708400-29709800	Weak transcription	Brain Angular Gyrus	brain
50	chr22:29708400-29711400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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