Variant report

Variant	rs132373
Chromosome Location	chr22:29604787-29604788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29603086..29606057-chr22:29664265..29665857,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs132308	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs132312	0.85[EUR][1000 genomes]
rs132314	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs132315	0.82[EUR][1000 genomes]
rs132316	0.82[EUR][1000 genomes]
rs132317	0.85[EUR][1000 genomes]
rs132321	0.82[EUR][1000 genomes]
rs132323	0.85[EUR][1000 genomes]
rs132341	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs132348	1.00[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs132350	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132351	1.00[EUR][1000 genomes]
rs132354	1.00[EUR][1000 genomes]
rs132363	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs132366	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132367	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132369	0.97[GIH][hapmap]
rs132370	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs132372	1.00[GIH][hapmap]
rs132377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs132378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132379	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs132380	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs132382	1.00[CEU][hapmap]
rs132386	1.00[CEU][hapmap]
rs469984	0.85[EUR][1000 genomes]
rs469985	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs713924	1.00[CEU][hapmap];0.82[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	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
5	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr22:29602200-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:29602400-29605200	Weak transcription	Gastric	stomach
3	chr22:29602400-29605800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29602400-29606200	Flanking Active TSS	Fetal Brain Female	brain
5	chr22:29602800-29604800	Enhancers	Lung	lung
6	chr22:29602800-29605200	Enhancers	Spleen	Spleen
7	chr22:29602800-29605600	Enhancers	Brain Substantia Nigra	brain
8	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:29602800-29616000	Weak transcription	Ovary	ovary
11	chr22:29603000-29604800	Enhancers	Brain Cingulate Gyrus	brain
12	chr22:29603000-29606000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr22:29603000-29606000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
14	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:29603200-29604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:29603200-29605800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:29603200-29605800	Genic enhancers	Fetal Stomach	stomach
18	chr22:29603400-29605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:29603400-29605000	Enhancers	Primary hematopoietic stem cells	blood
20	chr22:29603400-29605000	Enhancers	Pancreas	Pancrea
21	chr22:29603400-29605200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29603400-29605400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr22:29603400-29606000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:29603400-29606000	Enhancers	Fetal Lung	lung
25	chr22:29603400-29608800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:29603400-29611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:29603600-29606000	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr22:29603600-29606800	Weak transcription	Fetal Kidney	kidney
29	chr22:29603800-29604800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr22:29603800-29605800	Flanking Active TSS	GM12878-XiMat	blood
31	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
32	chr22:29604000-29604800	Enhancers	Fetal Thymus	thymus
33	chr22:29604000-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:29604000-29606000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:29604000-29606200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:29604000-29606200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
37	chr22:29604000-29616200	Weak transcription	Thymus	Thymus
38	chr22:29604200-29605600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr22:29604200-29605600	Enhancers	Brain Hippocampus Middle	brain
40	chr22:29604200-29605600	Enhancers	Duodenum Mucosa	Duodenum
41	chr22:29604200-29605800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr22:29604400-29604800	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr22:29604400-29605000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:29604400-29605000	Enhancers	Brain Germinal Matrix	brain
45	chr22:29604400-29605400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:29604600-29604800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr22:29604600-29605000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr22:29604600-29605000	Flanking Active TSS	Fetal Brain Male	brain
49	chr22:29604600-29605400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29604600-29605400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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