Variant report

Variant	rs2413145
Chromosome Location	chr22:33123444-33123445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32012966-32043914..22:33122663-33128227	K562	blood:

Variant related genes	Relation type
ENSG00000241878	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11089592	0.91[ASN][1000 genomes]
rs1894453	0.84[ASN][1000 genomes]
rs1894454	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2008206	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2157135	0.92[CEU][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs2157138	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2413146	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2413147	0.91[ASN][1000 genomes]
rs3788487	0.91[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3788488	0.83[JPT][hapmap]
rs3788489	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3788490	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3788491	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3788492	0.91[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3788493	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3788494	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3788495	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3788496	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3788497	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3827340	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4339044	0.83[JPT][hapmap]
rs4821091	0.89[ASN][1000 genomes]
rs5754240	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5994613	0.91[ASN][1000 genomes]
rs5998601	0.91[ASN][1000 genomes]
rs5998604	0.82[EUR][1000 genomes]
rs5998605	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5998607	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs743739	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs762885	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9606988	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv588897	chr22:33116314-33139230	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33117400-33124200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33120000-33124200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr22:33120000-33129600	Weak transcription	Right Atrium	heart
4	chr22:33120800-33127400	Weak transcription	Thymus	Thymus
5	chr22:33121000-33124200	Weak transcription	Dnd41	blood
6	chr22:33121400-33124200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:33121400-33124200	Weak transcription	Fetal Thymus	thymus
8	chr22:33121600-33127800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:33121800-33127200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:33121800-33141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:33122000-33124200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:33122000-33124400	Weak transcription	HepG2	liver
13	chr22:33122200-33124200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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