Variant report

Variant	rs2227245
Chromosome Location	chr1:169540080-169540081
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	chr1:169539510..169541317-chr1:169543367..169545442,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10919192	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10919193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11587922	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12402407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12402701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12403625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12406092	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12567645	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17521545	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1894700	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1894702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2040442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2187954	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2213870	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2213871	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2213872	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2213873	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2236869	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2236870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2236871	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2239854	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2298903	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2298905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34580812	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35852972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3766119	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3766120	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3766121	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3820061	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3917854	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4268401	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4656692	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4656693	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4656694	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4656695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6028	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61805771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61805772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6662176	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6666046	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6691048	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693839	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs724508	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs742127	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7542088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7542281	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7542345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544132	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7553699	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7554566	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9332510	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9332511	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9332513	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9332516	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9332531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332533	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9332538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332546	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332553	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9332554	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9332556	0.91[AMR][1000 genomes];0.98[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv872536	chr1:169538466-169547610	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv872537	chr1:169538603-169547610	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2227245	F5	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169506200-169542800	Weak transcription	Right Ventricle	heart
2	chr1:169524600-169541800	Weak transcription	Placenta	Placenta
3	chr1:169533200-169551600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:169533400-169544600	Enhancers	Stomach Mucosa	stomach
5	chr1:169534000-169541400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:169535400-169540200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:169535800-169541600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:169536400-169540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:169536400-169543600	Weak transcription	Left Ventricle	heart
10	chr1:169539000-169541600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:169539400-169540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:169539400-169540600	Enhancers	Liver	Liver
13	chr1:169539400-169542000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:169539800-169540600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:169539800-169540800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:169539800-169540800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:169539800-169540800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:169539800-169540800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:169539800-169543800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:169540000-169540200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:169540000-169540200	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links