Variant report

Variant	rs59016854
Chromosome Location	chr22:29603255-29603256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29603086..29606057-chr22:29664265..29665857,2	MCF-7	breast:
2	chr22:29602636..29604550-chr22:29611942..29613555,2	K562	blood:
3	chr22:29601873..29603950-chr22:29609240..29612185,2	MCF-7	breast:
4	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:

Variant related genes	Relation type
ENSG00000186998	Chromatin interaction
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs58306818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61615024	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397067	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397081	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397085	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397093	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397095	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399003	1.00[AMR][1000 genomes]
rs73399007	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399012	1.00[AMR][1000 genomes]
rs73399014	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399023	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399025	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399041	1.00[AMR][1000 genomes]
rs73399043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399052	1.00[AMR][1000 genomes]
rs73399056	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399059	1.00[AMR][1000 genomes]
rs9620871	1.00[AMR][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	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	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29601000-29603400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr22:29601200-29603400	Active TSS	Fetal Kidney	kidney
4	chr22:29601200-29603400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr22:29601400-29603600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr22:29601600-29603600	Active TSS	Fetal Intestine Large	intestine
7	chr22:29601800-29603400	Active TSS	GM12878-XiMat	blood
8	chr22:29602200-29603400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:29602200-29603600	Flanking Active TSS	Dnd41	blood
10	chr22:29602200-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:29602400-29603400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:29602400-29603400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr22:29602400-29605200	Weak transcription	Gastric	stomach
14	chr22:29602400-29605800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr22:29602400-29606200	Flanking Active TSS	Fetal Brain Female	brain
16	chr22:29602600-29603400	Active TSS	Brain Germinal Matrix	brain
17	chr22:29602600-29603400	Flanking Active TSS	Fetal Lung	lung
18	chr22:29602600-29603600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:29602600-29603800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr22:29602800-29603400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr22:29602800-29603800	Weak transcription	Thymus	Thymus
22	chr22:29602800-29604200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:29602800-29604600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:29602800-29604600	Enhancers	Fetal Brain Male	brain
25	chr22:29602800-29604800	Enhancers	Lung	lung
26	chr22:29602800-29605200	Enhancers	Spleen	Spleen
27	chr22:29602800-29605600	Enhancers	Brain Substantia Nigra	brain
28	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr22:29602800-29616000	Weak transcription	Ovary	ovary
31	chr22:29603000-29603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr22:29603000-29603400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr22:29603000-29603400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr22:29603000-29603400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:29603000-29603400	Active TSS	Stomach Smooth Muscle	stomach
36	chr22:29603000-29603400	Enhancers	K562	blood
37	chr22:29603000-29603600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:29603000-29603800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr22:29603000-29603800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr22:29603000-29604000	Weak transcription	Fetal Thymus	thymus
41	chr22:29603000-29604200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29603000-29604200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:29603000-29604400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:29603000-29604400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:29603000-29604600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:29603000-29604800	Enhancers	Brain Cingulate Gyrus	brain
47	chr22:29603000-29606000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr22:29603000-29606000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
49	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:29603200-29603400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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