Variant report

Variant	rs2267807
Chromosome Location	chr7:38452648-38452649
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	chr7:38452252..38454426-chr7:38686850..38688641,2	K562	blood:
2	chr7:38451973..38453487-chr7:38456143..38457740,2	K562	blood:

Variant related genes	Relation type
ENSG00000078053	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10085389	0.82[JPT][hapmap]
rs1019286	0.82[JPT][hapmap]
rs1019287	0.82[JPT][hapmap]
rs10229905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10232299	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10238666	0.85[ASN][1000 genomes]
rs10245053	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10246472	0.82[JPT][hapmap]
rs10247761	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248732	0.82[JPT][hapmap]
rs10249106	0.82[JPT][hapmap]
rs10249698	0.85[ASN][1000 genomes]
rs10250342	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10255786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10259475	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10264790	0.82[JPT][hapmap]
rs10264958	0.85[ASN][1000 genomes]
rs10266944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10267691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10276324	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10276544	0.82[JPT][hapmap]
rs10277878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10280133	1.00[JPT][hapmap]
rs10280220	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1030016	0.82[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs11486852	0.85[ASN][1000 genomes]
rs1158376	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763753	0.82[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1974673	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1974674	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2014872	0.81[ASN][1000 genomes]
rs2215955	0.83[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs2267804	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2267811	0.92[ASN][1000 genomes]
rs2284248	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2392568	0.82[EUR][1000 genomes]
rs2392570	0.82[EUR][1000 genomes]
rs28412720	0.85[ASN][1000 genomes]
rs28655138	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2893559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807390	1.00[JPT][hapmap]
rs3823595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4419725	0.85[ASN][1000 genomes]
rs4723756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs57983498	0.85[ASN][1000 genomes]
rs720667	0.95[LWK][hapmap]
rs7799083	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2267807	TBX20	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38431600-38489000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:38439000-38483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:38444000-38468600	Weak transcription	Fetal Stomach	stomach
4	chr7:38444800-38467600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:38449400-38458000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:38449600-38454000	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:38450000-38457200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:38451000-38460400	Weak transcription	Aorta	Aorta
9	chr7:38451600-38452800	Enhancers	Fetal Heart	heart
10	chr7:38451600-38454200	Enhancers	Primary B cells from cord blood	blood
11	chr7:38451800-38454200	Enhancers	Primary T cells from cord blood	blood
12	chr7:38452000-38453000	Enhancers	Fetal Thymus	thymus
13	chr7:38452000-38454000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:38452000-38454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:38452000-38454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:38452000-38454200	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:38452200-38452800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:38452200-38453600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:38452200-38453600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:38452400-38453800	Enhancers	Dnd41	blood
21	chr7:38452600-38453600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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