Variant report

Variant	rs7286662
Chromosome Location	chr22:32806130-32806131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr22:32806110-32806462	HL-60	blood:	n/a	chr22:32806191-32806200 chr22:32806189-32806202
2	SPI1	chr22:32806123-32806255	K562	blood:	n/a	chr22:32806191-32806200 chr22:32806189-32806202
3	SPI1	chr22:32806097-32806330	GM12878	blood:	n/a	chr22:32806191-32806200 chr22:32806189-32806202

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:
2	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11089558	1.00[EUR][1000 genomes]
rs11912086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11912716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11914186	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12159901	1.00[EUR][1000 genomes]
rs16990370	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2072816	0.84[YRI][hapmap]
rs28702904	1.00[EUR][1000 genomes]
rs58900751	1.00[EUR][1000 genomes]
rs59625475	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994545	1.00[EUR][1000 genomes]
rs5994546	1.00[EUR][1000 genomes]
rs5994548	1.00[EUR][1000 genomes]
rs5998426	1.00[EUR][1000 genomes]
rs60043294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61138259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621429	1.00[EUR][1000 genomes]
rs9621433	1.00[EUR][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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
6	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:32783200-32806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:32798000-32806800	Weak transcription	Psoas Muscle	Psoas
10	chr22:32802000-32806800	Genic enhancers	Primary B cells from cord blood	blood
11	chr22:32803800-32806200	Weak transcription	K562	blood
12	chr22:32804000-32806400	Weak transcription	Colonic Mucosa	Colon
13	chr22:32804200-32806200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:32804200-32806200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:32804200-32806400	Weak transcription	Gastric	stomach
16	chr22:32804200-32806600	Weak transcription	NHLF	lung
17	chr22:32804200-32806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:32804200-32806800	Weak transcription	Esophagus	oesophagus
19	chr22:32804200-32807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:32804400-32806200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr22:32804400-32806400	Weak transcription	Fetal Stomach	stomach
23	chr22:32804600-32806200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr22:32804600-32806200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:32804600-32806200	Weak transcription	Brain Angular Gyrus	brain
26	chr22:32804600-32806200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:32804600-32806200	Weak transcription	Fetal Thymus	thymus
28	chr22:32804600-32806200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:32804600-32807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:32804800-32806200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:32804800-32806200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:32804800-32806200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:32804800-32806200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr22:32804800-32806200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr22:32804800-32806400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr22:32804800-32806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:32804800-32807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:32804800-32807000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr22:32805000-32806200	Weak transcription	Primary T cells from cord blood	blood
40	chr22:32805000-32806200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr22:32805000-32806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:32805000-32806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:32805000-32806200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:32805000-32806200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr22:32805000-32806200	Weak transcription	Brain Substantia Nigra	brain
46	chr22:32805000-32806200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr22:32805000-32806200	Weak transcription	Fetal Heart	heart
48	chr22:32805000-32806200	Weak transcription	Fetal Intestine Small	intestine
49	chr22:32805000-32806200	Weak transcription	Fetal Kidney	kidney
50	chr22:32805000-32806200	Weak transcription	Fetal Lung	lung

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