Variant report

Variant	rs2225322
Chromosome Location	chr1:170491499-170491500
allele	C/G
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	ZNF274	chr1:170491482-170492091	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:170489857..170492306-chr1:170500327..170502278,3	K562	blood:
2	chr1:170490274..170493135-chr1:170498401..170502278,3	K562	blood:
3	chr1:170489121..170492119-chr1:170494227..170497230,3	K562	blood:

Variant related genes	Relation type
ENSG00000231407	TF binding region
ENSG00000231407	Chromatin interaction
ENSG00000120370	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10733056	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753815	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10800527	0.92[ASW][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs10919425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919434	1.00[AMR][1000 genomes]
rs12062348	1.00[AMR][1000 genomes]
rs12072089	1.00[AMR][1000 genomes]
rs12087798	1.00[AMR][1000 genomes]
rs12088253	1.00[AMR][1000 genomes]
rs12116909	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333133	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333142	0.95[YRI][hapmap]
rs1333150	0.95[AFR][1000 genomes]
rs1333151	0.81[AFR][1000 genomes]
rs1333153	0.81[AFR][1000 genomes]
rs1333154	0.81[AFR][1000 genomes]
rs1333155	0.97[AFR][1000 genomes]
rs1333156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412892	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs1412893	0.91[AFR][1000 genomes]
rs1412895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1537390	0.96[YRI][hapmap]
rs1537395	0.88[YRI][hapmap]
rs1537397	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1572026	0.81[AFR][1000 genomes]
rs1576979	0.86[AFR][1000 genomes]
rs1576980	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16863435	0.83[ASW][hapmap]
rs1831756	0.81[AFR][1000 genomes]
rs1855221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1928716	0.96[YRI][hapmap]
rs1930632	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1930633	0.81[AFR][1000 genomes]
rs1930634	0.81[AFR][1000 genomes]
rs2104918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2150029	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2421325	0.92[ASW][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs2901401	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3980839	0.95[AFR][1000 genomes]
rs4233350	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4325194	0.91[AFR][1000 genomes]
rs4402174	0.97[AFR][1000 genomes]
rs4415629	0.93[AFR][1000 genomes]
rs4469769	0.81[AFR][1000 genomes]
rs4603185	0.83[AFR][1000 genomes]
rs4656769	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656775	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656779	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656783	0.88[AFR][1000 genomes]
rs57462154	1.00[AMR][1000 genomes]
rs57674813	1.00[AMR][1000 genomes]
rs6427248	0.85[AFR][1000 genomes]
rs6427249	0.85[AFR][1000 genomes]
rs6427255	0.81[AFR][1000 genomes]
rs6427260	0.92[ASW][hapmap];0.85[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs6427261	0.92[ASW][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs6657164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664037	0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs6667304	0.94[AFR][1000 genomes]
rs6669308	0.92[ASW][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs6670724	0.95[AFR][1000 genomes]
rs6671312	0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs6676081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680083	1.00[AMR][1000 genomes]
rs6693763	0.92[ASW][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs6699057	0.82[AFR][1000 genomes]
rs6701004	0.81[AFR][1000 genomes]
rs6701218	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs6703801	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523665	0.86[AFR][1000 genomes]
rs7531125	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548443	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553254	0.96[YRI][hapmap];0.93[AFR][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	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170487200-170500200	Weak transcription	Right Ventricle	heart
2	chr1:170487600-170492000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:170488600-170492600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:170489600-170492400	Enhancers	NHLF	lung
5	chr1:170489800-170492400	Enhancers	NHDF-Ad	bronchial
6	chr1:170490200-170492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:170490400-170492600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:170490600-170492200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:170491200-170491800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:170491400-170492000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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